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Rare skin diseases

This section publishes translational and clinical research on a broad range of rare diseases (primarily genetic but also autoimmune, inflammatory, and infectious), characterized by the predominant involvement of skin and adnexa. Topics of interest range from research on disease aetiology, pathogenetic mechanisms, and disease modifiers, to studies on epidemiologic and diagnostic aspects of single disorders or disease groups, analyses of natural disease course, and descriptions of novel clinical features. A major focus is on all aspects of patient care, and particularly on recommendations for patient management. Review articles on specific diseases or disease groups are welcome.

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  1. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are p...

    Authors: Zahraa Chayed, Lone Krøldrup Kristensen, Lilian Bomme Ousager, Karina Rønlund and Anette Bygum

    Citation: Orphanet Journal of Rare Diseases 2021 16:34

    Content type: Review

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  2. This article presents evidence-based Clinical Practice Guidelines (CPG) for the provision of healthcare services to address sexuality for people living with epidermolysis bullosa (EB). Currently, a lack of EB-...

    Authors: Alex King, Humphrey Hanley, Mark Popenhagen, Florencia Perez, Kerry Thompson, Diana Purvis, Nora Garcia, Ida Steinlein, Mia Werkentoft, Matthew Lightfoot, Michelle Lahat, Kalsoom Begum and Julio Tanabe

    Citation: Orphanet Journal of Rare Diseases 2021 16:9

    Content type: Review

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  3. Aplasia cutis congenita (ACC) in patients with hereditary epidermolysis bullosa (EB) is often associated with major pain. We report our experience with using topical ropivacaine during dressing in newborns wit...

    Authors: A. Chambelland, C. Devos, F. Casagrande and C. Chiaverini

    Citation: Orphanet Journal of Rare Diseases 2020 15:338

    Content type: Letter to the Editor

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  4. Hereditary epidermolysis bullosa (EB) comprises a heterogeneous group of rare genodermatoses, which are caused by mutations in genes involved in the maintenance of the structural and functional integrity of de...

    Authors: Verena Wally, Manuela Reisenberger, Sophie Kitzmüller and Martin Laimer

    Citation: Orphanet Journal of Rare Diseases 2020 15:292

    Content type: Review

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  5. Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) (HAEnCI) is associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper airway obstruction. Several different gene mut...

    Authors: Konrad Bork, Thomas Machnig, Karin Wulff, Guenther Witzke, Subhransu Prusty and Jochen Hardt

    Citation: Orphanet Journal of Rare Diseases 2020 15:289

    Content type: Research

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  6. Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) can lead to severe ophthalmologic sequelae. The main risk factor is the severity of the initial ocular involvement. There are no recommendati...

    Authors: D. Thorel, S. Ingen-Housz-Oro, G. Royer, A. Delcampe, N. Bellon, C. Bodemer, A. Welfringer-Morin, D. Bremond-Gignac, M. P. Robert, M. Tauber, F. Malecaze, O. Dereure, V. Daien, A. Colin, C. Bernier, C. Couret…

    Citation: Orphanet Journal of Rare Diseases 2020 15:259

    Content type: Position statement

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  7. Erythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light. Afamelanotide is the fi...

    Authors: Jasmin Barman-Aksözen, Michèle Nydegger, Xiaoye Schneider-Yin and Anna-Elisabeth Minder

    Citation: Orphanet Journal of Rare Diseases 2020 15:213

    Content type: Research

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  8. Chronic wounds are a fundamental issue for patients with epidermolysis bullosa (EB). Herein, we assess the natural history of wound closure in patients with EB who were randomly assigned to the vehicle-control...

    Authors: Dedee F. Murrell, Amy S. Paller, Christine Bodemer, John Browning, Milos Nikolic, Jay A. Barth, Hjalmar Lagast, Eva Krusinska and Allen Reha

    Citation: Orphanet Journal of Rare Diseases 2020 15:190

    Content type: Research

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  9. Epidermolysis bullosa (EB) comprises inherited mechanobullous dermatoses with considerable morbidity and mortality. While current treatments are symptomatic, a growing number of innovative therapeutic compound...

    Authors: Christine Prodinger, Anja Diem, Katherina Ude-Schoder, Josefina Piñón-Hofbauer, Sophie Kitzmueller, Johann W. Bauer and Martin Laimer

    Citation: Orphanet Journal of Rare Diseases 2020 15:182

    Content type: Research

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  10. Epidermolysis bullosa (EB) is a rare genetic disorder that manifests as blistering and/or skin erosion. There is no approved treatment for EB; current standard of care consists of wound and pain management. SD...

    Authors: Amy S. Paller, John Browning, Milos Nikolic, Christine Bodemer, Dedee F. Murrell, Willistine Lenon, Eva Krusinska, Allen Reha, Hjalmar Lagast and Jay A. Barth

    Citation: Orphanet Journal of Rare Diseases 2020 15:158

    Content type: Research

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  11. Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions.

    Authors: Qian Lu, Xiu-Yu Shi, Yang-Yang Wang, Meng-Na Zhang, Wen-Ze Wang, Jing Wang, Qiu-Hong Wang, Hui-Min Chen and Li-Ping Zou

    Citation: Orphanet Journal of Rare Diseases 2020 15:147

    Content type: Research

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  12. Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of different types of EB varies markedly as does the occurrence o...

    Authors: Jemima E. Mellerio, Maya El Hachem, Nathalia Bellon, Giovanna Zambruno, Hana Buckova, Rudolf Autrata, Carmen Salavastru, Tamara Caldaro, Celine Greco, Cristina Has and Christine Bodemer

    Citation: Orphanet Journal of Rare Diseases 2020 15:142

    Content type: Review

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  13. While skin carcinomas are reported in chronic ulcers and in patients treated with hydroxyurea (HU) for myeloproliferative neoplasms, no skin carcinoma has been reported in patients with sickle cell disease (SC...

    Authors: Boutros Soutou, Patricia Senet, François Lionnet, Anoosha Habibi and Sélim Aractingi

    Citation: Orphanet Journal of Rare Diseases 2020 15:66

    Content type: Research

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  14. Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is associated with skin swellings, abdominal pain a...

    Authors: Konrad Bork, Karin Wulff, Guenther Witzke, Thomas Machnig and Jochen Hardt

    Citation: Orphanet Journal of Rare Diseases 2020 15:52

    Content type: Research

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  16. X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teet...

    Authors: Sigrun Wohlfart, Ralph Meiller, Johanna Hammersen, Jung Park, Johannes Menzel-Severing, Volker O. Melichar, Kenneth Huttner, Ramsey Johnson, Florence Porte and Holm Schneider

    Citation: Orphanet Journal of Rare Diseases 2020 15:7

    Content type: Research

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  17. Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes.

    Authors: Anna L. Bruckner, Michael Losow, Jayson Wisk, Nita Patel, Allen Reha, Hjalmar Lagast, Jamie Gault, Jayne Gershkowitz, Brett Kopelan, Michael Hund and Dedee F. Murrell

    Citation: Orphanet Journal of Rare Diseases 2020 15:1

    Content type: Research

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  18. Neurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden.

    Authors: Marlene Guiraud, Athmane Bouroubi, Roxane Beauchamp, Arnaud Bocquet, Jean-Marc Grégoire, Isabelle Rauly-Lestienne, Ignacio Blanco, Pierre Wolkenstein and Anne-Marie Schmitt

    Citation: Orphanet Journal of Rare Diseases 2019 14:286

    Content type: Research

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  19. Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation characterised by persistent reticulated marbled erythema. It tends to be associated with cutaneous atrophy, ulcerations and bod...

    Authors: Teresa Nu Phuong Trinh Bui, Ayse Corap and Anette Bygum

    Citation: Orphanet Journal of Rare Diseases 2019 14:283

    Content type: Review

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  20. Ectodermal dysplasias (ED) are a group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives. An attenuated phenotype is considered a non-syndromic trait when...

    Authors: María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López and Encarna Guillén-Navarro

    Citation: Orphanet Journal of Rare Diseases 2019 14:281

    Content type: Research

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  21. Dystrophic epidermolysis bullosa (DEB) is a hereditary skin fragility disorder, characterized by trauma-induced blistering followed by soft tissue fibrosis. One of the most feared complications is the early de...

    Authors: Andrea Diociaiuti, Holger Steinke, Alexander Nyström, Agnes Schwieger-Briel, Frank Meiss, Christina Pfannenberg, Leena Bruckner-Tuderman, Juri Ruf, Rita De Vito, May El Hachem and Dimitra Kiritsi

    Citation: Orphanet Journal of Rare Diseases 2019 14:278

    Content type: Letter to the Editor

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  22. Incontentia pigmenti (IP) is a rare multisystem disorder of ectodermal origin comprising skin, dental, ocular and central nervous system features. Symptomatic treatments are adapted to each family according to...

    Authors: Charles Taieb, Smail Hadj-Rabia, Jacques Monnet, Mohammed Bennani and Christine Bodemer

    Citation: Orphanet Journal of Rare Diseases 2019 14:271

    Content type: Research

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  23. Segmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its characteristics are not well described in the literature. Our objective wa...

    Authors: Abdulqader Alaidarous, Beatrice Parfait, Salah Ferkal, Joëlle Cohen, Pierre Wolkenstein and Juliette Mazereeuw-Hautier

    Citation: Orphanet Journal of Rare Diseases 2019 14:207

    Content type: Research

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  24. Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein ...

    Authors: Sara Guerrero-Aspizua, Claudio J. Conti, Maria Jose Escamez, Daniele Castiglia, Giovanna Zambruno, Leila Youssefian, Hassan Vahidnezhad, Luis Requena, Peter Itin, Gianluca Tadini, Ivelina Yordanova, Ludovic Martin, Jouni Uitto, Cristina Has and Marcela Del Rio

    Citation: Orphanet Journal of Rare Diseases 2019 14:183

    Content type: Research

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  25. No study to date has followed disease progression in patients with neurofibromatosis type 1 (NF1), including the incidence of various manifestations, using a national registry. Here we examined the state of NF...

    Authors: Takashi Yamauchi, Machi Suka, Chikako Nishigori and Hiroyuki Yanagisawa

    Citation: Orphanet Journal of Rare Diseases 2019 14:166

    Content type: Research

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  26. Epidermolysis Bullosa (EB) is a group of rare genetic disorders resulting in skin fragility and other symptoms. Commissioned by DEBRA International and funded by DEBRA Norway, this evidence-bases guideline pro...

    Authors: K. Martin, S. Geuens, J. K. Asche, R. Bodan, F. Browne, A. Downe, N. García García, G. Jaega, B. Kennedy, P. J. Mauritz, F. Pérez, K. Soon, V. Zmazek and K. M. Mayre-Chilton

    Citation: Orphanet Journal of Rare Diseases 2019 14:133

    Content type: Review

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  27. The purpose of this article is to summarize the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International evidence-based Clinical Practice Guidelines (CPGs) for the provision of occupational ...

    Authors: Jennifer M. Chan, Amy Weisman, Alex King, Susan Maksomski, Carrissa Shotwell, Claire Bailie, Helen Weaver, Rebecca Bodan, Estrella Guerrero, Matija Zmazek and Phuong Khuu

    Citation: Orphanet Journal of Rare Diseases 2019 14:129

    Content type: Review

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  28. Linear IgA bullous dermatosis (LABD) is a rare autoimmune subepithelial vesiculobullous disease due to IgA autoantibodies directed against different antigens of the basement membrane zone (BMZ) of the skin and...

    Authors: Giovanni Genovese, Luigia Venegoni, Daniele Fanoni, Simona Muratori, Emilio Berti and Angelo Valerio Marzano

    Citation: Orphanet Journal of Rare Diseases 2019 14:115

    Content type: Research

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  29. Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients.

    Authors: Nacim Louhichi, Emna Bahloul, Slaheddine Marrakchi, Houda Ben Othman, Chahnez Triki, Kawthar Aloulou, Lobna Trabelsi, Nadia Mahfouth, Zeineb Ayadi-Mnif, Leila Keskes, Faiza Fakhfakh and Hamida Turki

    Citation: Orphanet Journal of Rare Diseases 2019 14:112

    Content type: Research

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  30. Neurofibromatosis Type 1 (NF1) is a common genetic neurocutaneous disease, with an autosomal dominant inheritance mode. Quality of life has been shown impaired in NF1, due to severe complications, cosmetic fea...

    Authors: Marie-Laure Armand, Charles Taieb, Aline Bourgeois, Mireille Bourlier, Mohammed Bennani, Christine Bodemer and Pierre Wolkenstein

    Citation: Orphanet Journal of Rare Diseases 2019 14:94

    Content type: Research

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  31. Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatol...

    Authors: Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová and Lenka Fajkusová

    Citation: Orphanet Journal of Rare Diseases 2019 14:92

    Content type: Letter to the Editor

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  32. Netherton syndrome (NS) is a rare life-threatening syndrome caused by SPINK5 mutations leading to a skin barrier defect and a severe atopic diathesis. NS patients are prone to bacterial infections, but the unders...

    Authors: Elina Eränkö, Mette Ilander, Mirja Tuomiranta, Antti Mäkitie, Tea Lassila, Anna Kreutzman, Paula Klemetti, Satu Mustjoki, Katariina Hannula-Jouppi and Annamari Ranki

    Citation: Orphanet Journal of Rare Diseases 2018 13:213

    Content type: Research

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  34. Generalized severe epidermolysis bullosa simplex (EBS-gen sev) is caused by mutations within either the KRT5 or KRT14 gene, phenotypically resulting in blistering and wounding of the skin and mucous membranes aft...

    Authors: Michael Ablinger, Thomas K. Felder, Monika Wimmer, Roland Zauner, Peter Hofbauer, Thomas Lettner, Martin Wolkersdorfer, Florian B. Lagler, Anja Diem, Johann W. Bauer and Verena Wally

    Citation: Orphanet Journal of Rare Diseases 2018 13:193

    Content type: Letter to the Editor

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  35. Extensive and complex vascular malformations often cause chronic pain and severe functional restraint. Conventional treatments, such as surgery and/or sclerotherapy, are rarely curative, underscoring the great...

    Authors: Jennifer Hammer, Emmanuel Seront, Steven Duez, Sophie Dupont, An Van Damme, Sandra Schmitz, Claire Hoyoux, Caroline Chopinet, Philippe Clapuyt, Frank Hammer, Miikka Vikkula and Laurence M. Boon

    Citation: Orphanet Journal of Rare Diseases 2018 13:191

    Content type: Research

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  36. IgA pemphigus is an exceedingly rare autoimmune blistering disorder, caused by IgA autoantibodies against desmosomal proteins. No treatment option has been found to be universally effective. The disease is oft...

    Authors: Franziska Schauer, Johannes Steffen Kern and Dimitra Kiritsi

    Citation: Orphanet Journal of Rare Diseases 2018 13:163

    Content type: Letter to the Editor

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  37. Albinism comprises a group of autosomal recessive diseases that are characterized by poor vision and a variable hypopigmentation phenotype. A comprehensive literature review showed that no tool can assess the ...

    Authors: Fanny Morice-Picard, Charles Taïeb, Aurelie Marti, Antoine Gliksohn, Mohammed Bennani, Christine Bodemer and Khaled Ezzedine

    Citation: Orphanet Journal of Rare Diseases 2018 13:162

    Content type: Research

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  38. Epidermolysis bullosa acquisita (EBA) is an orphan autoimmune disease. Several clinical phenotypes have been described, but subepidermal blistering is characteristic of all variants. Limited data on clinical a...

    Authors: Hiroaki Iwata, Artem Vorobyev, Hiroshi Koga, Andreas Recke, Detlef Zillikens, Catherine Prost-Squarcioni, Norito Ishii, Takashi Hashimoto and Ralf J. Ludwig

    Citation: Orphanet Journal of Rare Diseases 2018 13:153

    Content type: Research

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  39. Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is a rare inherited disease. In most HAE-affected subjects, defined trigger factors precede angioedema attacks. Mechanisms of how trigger factors...

    Authors: Urs C. Steiner, Lea Kölliker, Christina Weber-Chrysochoou, Peter Schmid-Grendelmeier, Elsbeth Probst, Walter A. Wuillemin and Arthur Helbling

    Citation: Orphanet Journal of Rare Diseases 2018 13:90

    Content type: Research

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  40. Epidermolysis bullosa (EB) and autoimmune blistering diseases (AIBD) describe a group of rare chronic dermatoses characterized by cutaneous fragility and blistering. Although uncommon, significant ocular surfa...

    Authors: Brendon W. H. Lee, Jeremy C. K. Tan, Melissa Radjenovic, Minas T. Coroneo and Dedee F. Murrell

    Citation: Orphanet Journal of Rare Diseases 2018 13:83

    Content type: Review

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  41. Epidermal necrolysis (EN) encompasses Stevens-Johnson syndrome (SJS, < 10% of the skin affected), Lyell syndrome (toxic epidermal necrolysis, TEN, with ≥30% of the skin affected) and an overlap syndrome (10 to...

    Authors: Saskia Ingen-Housz-Oro, Tu-Anh Duong, Benoit Bensaid, Nathalia Bellon, Nicolas de Prost, Dévy Lu, Bénédicte Lebrun-Vignes, Julie Gueudry, Emilie Bequignon, Karim Zaghbib, Gérard Royer, Audrey Colin, Giao Do-Pham, Christine Bodemer, Nicolas Ortonne, Annick Barbaud…

    Citation: Orphanet Journal of Rare Diseases 2018 13:56

    Content type: Position statement

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  42. Acitretin is the main retinoid used to treat severe inherited ichthyosis. Alternatives may be considered if it results ineffective or there are side-effects, or for women of childbearing age.

    Authors: Giuliana Onnis, Christine Chiaverini, Geoffroy Hickman, Isabelle Dreyfus, Judith Fischer, Emmanuelle Bourrat and Juliette Mazereeuw-Hautier

    Citation: Orphanet Journal of Rare Diseases 2018 13:46

    Content type: Research

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  43. Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed a...

    Authors: Anna Boye Kromann, Lilian Bomme Ousager, Inas Kamal Mohammad Ali, Nurcan Aydemir and Anette Bygum

    Citation: Orphanet Journal of Rare Diseases 2018 13:39

    Content type: Review

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  44. Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a predisposition to develop multiple benign tumors. A major feature of NF1 is the development of localized cutaneous neurofibromas. Cutaneo...

    Authors: Ashley Cannon, Mei-Jan Chen, Peng Li, Kevin P. Boyd, Amy Theos, David T. Redden and Bruce Korf

    Citation: Orphanet Journal of Rare Diseases 2018 13:31

    Content type: Research

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  45. Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular sy...

    Authors: Jussi Leppävirta, Roope A. Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen and Sirkku Peltonen

    Citation: Orphanet Journal of Rare Diseases 2018 13:5

    Content type: Research

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  46. Health Related Quality of Life (HR-QoL) Patient reported outcome measures (PROMs) have high utility in evaluation of new interventions in genodermatoses, however inconsistent standards of development and valid...

    Authors: John W. Frew, Mark Davidson and Dedee F. Murrell

    Citation: Orphanet Journal of Rare Diseases 2017 12:189

    Content type: Review

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  47. A differential diagnosis must be made between transient yellow discoloration of the nails and yellow nail syndrome. We highlight some practical aspects of yellow nail discoloration.

    Authors: Anca Chiriac, Adrian Naznean, Cristian Podoleanu and Simona Stolnicu

    Citation: Orphanet Journal of Rare Diseases 2017 12:159

    Content type: Letter to the Editor

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  48. A localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very ...

    Authors: Jennifer Brun, Christine Chiaverini, Caroline Devos, Stéphanie Leclerc-Mercier, Juliette Mazereeuw, Emmanuelle Bourrat, Annabel Maruani, Stéphanie Mallet, Claire Abasq, Alice Phan, Pierre Vabres, Ludovic Martin, Christine Bodemer, Sylvie Lagrange and Jean-Philippe Lacour

    Citation: Orphanet Journal of Rare Diseases 2017 12:119

    Content type: Research

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  49. Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that ...

    Authors: Dominique P. Germain

    Citation: Orphanet Journal of Rare Diseases 2017 12:85

    Content type: Review

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  50. With a potentially early onset, hereditary angioedema (HAE) requires special knowledge also in infancy and early childhood. In children from families with HAE, the diagnosis should be confirmed or refuted earl...

    Authors: Anne Aabom, Klaus E. Andersen, Christina Fagerberg, Niels Fisker, Marianne A. Jakobsen and Anette Bygum

    Citation: Orphanet Journal of Rare Diseases 2017 12:55

    Content type: Research

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172