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  1. Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favored due to the associated lower incremental cost per diagno...

    Authors: Ahra Cho, Jose Ronaldo Lima de Carvalho Jr, Akemi J. Tanaka, Ruben Jauregui, Sarah R. Levi, Alexander G. Bassuk, Vinit B. Mahajan and Stephen H. Tsang

    Citation: Orphanet Journal of Rare Diseases 2020 15:32

    Content type: Research

    Published on:

  2. Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood. The first description given by Leigh pointed out neu...

    Authors: Manuela Schubert Baldo and Laura Vilarinho

    Citation: Orphanet Journal of Rare Diseases 2020 15:31

    Content type: Review

    Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:77

  3. Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of un...

    Authors: Patrícia Varela, Gianna Mastroianni Kirsztajn, Fabiana L. Motta, Renan P. Martin, Lauro T. Turaça, Henrique L. F. Ferrer, Caio P. Gomes, Priscila Nicolicht, Maryana Mara Marins, Juliana G. Pessoa, Marion C. Braga, Vânia D’Almeida, Ana Maria Martins and João B. Pesquero

    Citation: Orphanet Journal of Rare Diseases 2020 15:30

    Content type: Research

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  4. Recessive mutations in GJB2 is the most common cause of genetic hearing loss worldwide. The aim of this study is to determine the spectrum and frequency of GJB2 variants in Chinese Han deaf patients and to invest...

    Authors: Xiaoyu Yu, Yun Lin, Jun Xu, Tuanjie Che, Lin Li, Tao Yang and Hao Wu

    Citation: Orphanet Journal of Rare Diseases 2020 15:29

    Content type: Research

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  5. Despite the high prevalence of depressive symptoms in Fabry disease (FD), it is unclear which patient characteristics are important in relation to these symptoms. Additionally, the impact of coping styles in r...

    Authors: Simon Körver, Gert J. Geurtsen, Carla E. M. Hollak, Ivo N. van Schaik, Maria G. F. Longo, Marjana R. Lima, Leonardo Vedolin, Marcel G. W. Dijkgraaf and Mirjam Langeveld

    Citation: Orphanet Journal of Rare Diseases 2020 15:28

    Content type: Research

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  7. To compare the similarity of the non-patented T2* and the high cost patented R2 (Ferriscan®) MRI techniques in the measurement of liver iron concentration (LIC) in heavily transfused patients with thalassaemia...

    Authors: Padmapani Padeniya, Shirom Siriwardana, Dileepa Ediriweera, Nayana Samarasinghe, Sasanka Silva, Ishari Silva, Nizri Ahamed, Madunil Niriella and Anuja Premawardhena

    Citation: Orphanet Journal of Rare Diseases 2020 15:26

    Content type: Letter to the Editor

    Published on:

  8. Childhood interstitial lung diseases (ILD) (chILD) refer to a rare heterogeneous group of disorders. Global collaborations have been working on the etiologies and classification scheme of chILD. With the devel...

    Authors: Xiaolei Tang, Huimin Li, Hui Liu, Hui Xu, Haiming Yang, Jinrong Liu and Shunying Zhao

    Citation: Orphanet Journal of Rare Diseases 2020 15:25

    Content type: Research

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  9. Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by lacking expression of imprinted genes on the paternally derived chromosome 15q11-q13 region. This study aimed to characterize the pe...

    Authors: Lili Yang, Qiong Zhou, Bo Ma, Shujiong Mao, Yanli Dai, Mingqiang Zhu and Chaochun Zou

    Citation: Orphanet Journal of Rare Diseases 2020 15:24

    Content type: Research

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  10. This review will summarize current knowledge on the burden of illness (BOI) in tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with hamartomas throughout the body, including mainly...

    Authors: Johann Philipp Zöllner, David Neal Franz, Christoph Hertzberg, Rima Nabbout, Felix Rosenow, Matthias Sauter, Susanne Schubert-Bast, Adelheid Wiemer-Kruel and Adam Strzelczyk

    Citation: Orphanet Journal of Rare Diseases 2020 15:23

    Content type: Review

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  11. Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder of genetic origin. It manifests itself in endocrine and cognitive problems, including highly pronounced hyperphagia and severe obes...

    Authors: Kuzma Strenilkov, Jimmy Debladis, Juliette Salles, Marion Valette, Carine Mantoulan, Denise Thuilleaux, Virginie Laurier, Catherine Molinas, Pascal Barone and Maïthé Tauber

    Citation: Orphanet Journal of Rare Diseases 2020 15:22

    Content type: Research

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  12. No information is currently available regarding the natural history of asymptomatic intracranial aneurysms in beta-thalassemia, raising several concerns about their proper management.

    Authors: Renzo Manara, Martina Caiazza, Rosanna Di Concilio, Angela Ciancio, Elisa De Michele, Caterina Maietta, Daniela Capalbo, Camilla Russo, Domenico Roberti, Maddalena Casale, Andrea Elefante, Fabrizio Esposito, Sara Ponticorvo, Andrea Gerardo Russo, Antonietta Canna, Mario Cirillo…

    Citation: Orphanet Journal of Rare Diseases 2020 15:21

    Content type: Research

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  13. Evidence supports that hereditary angioedema (HAE) may be considered as a paroxysmal permeability disorder with defective but self-limiting endothelial barrier dysfunction. A potential subclinical abnormal vas...

    Authors: Paola Triggianese, Massimo Cesareo, Maria Domenica Guarino, Paola Conigliaro, Maria Sole Chimenti, Francesca Cedola, Caterina Mazzeo, Carlo Nucci and Roberto Perricone

    Citation: Orphanet Journal of Rare Diseases 2020 15:20

    Content type: Letter to the Editor

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  14. Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological si...

    Authors: Eeva-Kaisa Schmidt, Tuuli Mustonen, Sari Kiuru-Enari, Tero T. Kivelä and Sari Atula

    Citation: Orphanet Journal of Rare Diseases 2020 15:19

    Content type: Research

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  15. Rare diseases are a priority objective for public health systems. Given its complexity, late and misdiagnoses occur very often which causes mental and physical burden for patients and family. This would be cau...

    Authors: Enrique Ramalle-Gómara, Elena Domínguez-Garrido, María Gómez-Eguílaz, María Eugenia Marzo-Sola, José Luis Ramón-Trapero and Josefa Gil-de-Gómez

    Citation: Orphanet Journal of Rare Diseases 2020 15:18

    Content type: Research

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  16. Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because o...

    Authors: Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C. M. Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B. Savage, Paolo Sbraccia…

    Citation: Orphanet Journal of Rare Diseases 2020 15:17

    Content type: Research

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  17. The low prevalence of European paediatric transplanted patients and scarcity of resources and expertise led to the need for a multidisciplinary network able to improve the quality of life of paediatric patient...

    Authors: P. Jara, A. Baker, U. Baumann, A. M. Borobia, S. Branchereu, M. Candusso, A. J. Carcas, C. Chardot, J. Cobas, L. D’Antiga, C. Ferreras, E. Fitzpatrick, E. Frauca, F. Hernández-Oliveros, P. Kaliciński, C. Lindemans…

    Citation: Orphanet Journal of Rare Diseases 2020 15:16

    Content type: Position statement

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  18. ß-thalassemia is one of the most common inherited blood disorders in the world and a major deterrent to the public health of Bangladesh. The management of thalassemia patients requires lifelong frequent blood ...

    Authors: Farjana Akther Noor, Nusrat Sultana, Golam Sarower Bhuyan, Md Tarikul Islam, Mohabbat Hossain, Suprovath Kumar Sarker, Khaleda Islam, Waqar Ahmed Khan, Mujahida Rahman, Syeda Kashfi Qadri, Hossain Uddin Shekhar, Firdausi Qadri, Syed Saleheen Qadri and Kaiissar Mannoor

    Citation: Orphanet Journal of Rare Diseases 2020 15:15

    Content type: Research

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  19. Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especia...

    Authors: Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi and Sirous Zeinali

    Citation: Orphanet Journal of Rare Diseases 2020 15:14

    Content type: Research

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  20. Myasthenia gravis is a rare autoimmune neuromuscular disorder. The disorder requires long-term use of expensive medication to control clinical symptoms. This study analyzed the change in trends of total medica...

    Authors: Tao-yu Lin, Xiao-yan Zhang, Peng-qian Fang and Rui Min

    Citation: Orphanet Journal of Rare Diseases 2020 15:13

    Content type: Research

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  21. Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions....

    Authors: Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Alvi Rahman, Pranesh Chakraborty, Michael T. Geraghty, Julie Irwin, Laure Tessier, Stuart G. Nicholls, Martin Offringa, Nancy J. Butcher, Ryan Iverson, Tammy J. Clifford, Sylvia Stockler…

    Citation: Orphanet Journal of Rare Diseases 2020 15:12

    Content type: Review

    Published on:

  22. Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness invo...

    Authors: Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca Jr, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault and Roberto Araujo

    Citation: Orphanet Journal of Rare Diseases 2020 15:11

    Content type: Research

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  23. To determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis.

    Authors: Sadia Jahan, Subashini Sarathchandran, Shamina Akhter, Jack Goldblatt, Samantha Stark, Douglas Crawford, Andrew Mallett and Mark Thomas

    Citation: Orphanet Journal of Rare Diseases 2020 15:10

    Content type: Research

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  24. C3 hypocomplementemia and the presence of C3 nephritic factor (C3NeF), an autoantibody causing complement system over-activation, are common features among most patients affected by Barraquer-Simons syndrome (...

    Authors: Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sofía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar and Margarita López-Trascasa

    Citation: Orphanet Journal of Rare Diseases 2020 15:9

    Content type: Research

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:79

  26. 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

    Published on:

  27. Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder for which 6 genes in the TGF-β pathway have been identified as causative. With the widespread use of genetic testing, the range of known clinical...

    Authors: Hang Yang, Yanyun Ma, Mingyao Luo, Guoyan Zhu, Yinhui Zhang, Binbin Li, Chang Shu and Zhou Zhou

    Citation: Orphanet Journal of Rare Diseases 2020 15:6

    Content type: Research

    Published on:

  29. Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler syndrome, is a genetic vascular disorder affecting 1 in 5000–8000 individuals worldwide. This rare disease is characterized by various vascul...

    Authors: Florian Robert, Agnès Desroches-Castan, Sabine Bailly, Sophie Dupuis-Girod and Jean-Jacques Feige

    Citation: Orphanet Journal of Rare Diseases 2020 15:4

    Content type: Review

    Published on:

  30. The European Medicine Agency granted marketing approval to 164 orphan medicinal products for rare diseases, among which 28 products intended for the treatment of hereditary metabolic diseases. Taking advantage...

    Authors: Jean-Michel Heard, Charlotte Vrinten, Michael Schlander, Cinzia Maria Bellettato, Corine van Lingen and Maurizio Scarpa

    Citation: Orphanet Journal of Rare Diseases 2020 15:3

    Content type: Research

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  31. Children with rare bone diseases (RBDs), whether medically complex or not, raise multiple issues in emergency situations. The healthcare burden of children with RBD in emergency structures remains unknown. The...

    Authors: David Dawei Yang, Geneviève Baujat, Antoine Neuraz, Nicolas Garcelon, Claude Messiaen, Arnaud Sandrin, Gérard Cheron, Anita Burgun, Zagorka Pejin, Valérie Cormier-Daire and François Angoulvant

    Citation: Orphanet Journal of Rare Diseases 2020 15:2

    Content type: Research

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  32. 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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  33. Rare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis, molecular techniques and treatment technologies however, are leading to unpa...

    Authors: Ataf Hussain Sabir and Trevor Cole

    Citation: Orphanet Journal of Rare Diseases 2019 14:300

    Content type: Review

    Published on:

  34. Antley-Bixler syndrome (ABS) caused by P450 oxidoreductase deficiency (PORD) is a congenital adrenal hyperplasia with skeletal malformations and disordered sex development in both sexes. There have been no rep...

    Authors: Lijun Fan, Xiaoya Ren, Yanning Song, Chang Su, Junfen Fu and Chunxiu Gong

    Citation: Orphanet Journal of Rare Diseases 2019 14:299

    Content type: Research

    Published on:

  35. Subjects with the rare autosomal dominant disease Hereditary Hemorrhagic Telangiectasia (HHT) may develop medical conditions that require antithrombotic therapy (AT). However, safety of AT is uncertain in thes...

    Authors: Eleonora Gaetani, Fabiana Agostini, Angelo Porfidia, Igor Giarretta, Daniela Feliciani, Luigi Di Martino, Annalisa Tortora, Antonio Gasbarrini and Roberto Pola

    Citation: Orphanet Journal of Rare Diseases 2019 14:298

    Content type: Letter to the Editor

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  36. Primary hypertrophic osteoarthropathy (PHO) is a rare disease related to HPGD and SLCO2A1 gene mutation. Gastrointestinal involvement of PHO is even rarer with unknown pathogenesis. Clinical features of GI compli...

    Authors: Qiang Wang, Ying-he Li, Guo-le Lin, Yue Li, Wei-xun Zhou, Jia-ming Qian, Wei-bo Xia and Dong Wu

    Citation: Orphanet Journal of Rare Diseases 2019 14:297

    Content type: Research

    Published on:

  37. Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optic...

    Authors: Yevgeniya Atiskova, Rahman Rassuli, Anja Friederike Koehn, Amir Golsari, Lars Wagenfeld, Marcel du Moulin, Nicole Muschol and Simon Dulz

    Citation: Orphanet Journal of Rare Diseases 2019 14:296

    Content type: Research

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  38. Mutations in the Kelch-like protein 7 (KLHL7) represent a recently described and, to date, poorly characterized etiology of inherited retinal dystrophy. Dominant mutations in KLHL7 are a cause of isolated, non-sy...

    Authors: Jin Kyun Oh, Jose Ronaldo Lima de Carvalho Jr, Young Joo Sun, Sara Ragi, Jing Yang, Sarah R. Levi, Joseph Ryu, Alexander G. Bassuk, Vinit B. Mahajan and Stephen H. Tsang

    Citation: Orphanet Journal of Rare Diseases 2019 14:295

    Content type: Research

    Published on:

  39. Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. MADB is characterized by brittle hair, mottled, atrophic skin, gene...

    Authors: M. M. Hitzert, S. N. van der Crabben, G. Baldewsingh, H. K. Ploos van Amstel, A. van den Wijngaard, C. M. A. van Ravenswaaij-Arts and C. W. R. Zijlmans

    Citation: Orphanet Journal of Rare Diseases 2019 14:294

    Content type: Research

    Published on:

  40. Both mandibular condylar hyperplasia and condylar osteochondroma can lead to maxillofacial skeletal asymmetry and malocclusion, although they exhibit different biological behavior. This study attempted to comp...

    Authors: Jingshuang Yu, Tong Yang, Jiewen Dai and Xudong Wang

    Citation: Orphanet Journal of Rare Diseases 2019 14:293

    Content type: Research

    Published on:

  41. Methylmalonic acidemia (MMA) and propionic acidemia (PA) are two kinds of diseases caused by inborn errors of metabolism. So far, the epidemiological data on them are limited in China. The aim of our study is ...

    Authors: Yi-Zhou Jiang, Yu Shi, Ying Shi, Lan-Xia Gan, Yuan-Yuan Kong, Zhi-Jun Zhu, Hai-Bo Wang and Li-Ying Sun

    Citation: Orphanet Journal of Rare Diseases 2019 14:292

    Content type: Research

    Published on:

  42. Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder whose oral manifestations and dental phenotypes have not been well-characterized. The aim of this study was to explore the influence of oral mani...

    Authors: Quynh C. Nguyen, Olivier Duverger, Rashmi Mishra, Gabriela Lopez Mitnik, Priyam Jani, Pamela A. Frischmeyer-Guerrerio and Janice S. Lee

    Citation: Orphanet Journal of Rare Diseases 2019 14:291

    Content type: Research

    Published on:

  43. Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be dia...

    Authors: Feng-Juan Gao, Fang-Yuan Hu, Ping Xu, Yu-He Qi, Jian-Kang Li, Yong-Jin Zhang, Fang Chen, Qing Chang, Fang Song, Si-Mai Shen, Ge-Zhi Xu and Ji-Hong Wu

    Citation: Orphanet Journal of Rare Diseases 2019 14:290

    Content type: Research

    Published on:

  44. Rare diseases (RDs) are a large number of diverse conditions with low individual prevalence, but collectively may affect up to 3.5–5.9% of the population. They have psychosocial and economic impact on patients...

    Authors: Gonzalo Encina, Carla Castillo-Laborde, Juan A. Lecaros, Karen Dubois-Camacho, Juan F. Calderón, Ximena Aguilera, Andrés D. Klein and Gabriela M. Repetto

    Citation: Orphanet Journal of Rare Diseases 2019 14:289

    Content type: Position statement

    Published on:

  45. Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as segmental because...

    Authors: Maude Grelet, Véronique Blanck, Sabine Sigaudy, Nicole Philip, Fabienne Giuliano, Khaoula Khachnaoui, Godelieve Morel, Sarah Grotto, Julia Sophie, Céline Poirsier, James Lespinasse, Laurent Alric, Patrick Calvas, Gihane Chalhoub, Valérie Layet, Arnaud Molin…

    Citation: Orphanet Journal of Rare Diseases 2019 14:288

    Content type: Research

    Published on:

  46. Orphan medicinal product (OMP) prices are considered by some to be a challenge to the sustainability of healthcare expenditure. These concerns are compounded by the increasing number of OMPs receiving marketin...

    Authors: Jorge Mestre-Ferrandiz, Christina Palaska, Tom Kelly, Adam Hutchings and Adam Parnaby

    Citation: Orphanet Journal of Rare Diseases 2019 14:287

    Content type: Research

    Published on:

  47. 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

    Published on:

  48. Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). Howe...

    Authors: Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens…

    Citation: Orphanet Journal of Rare Diseases 2019 14:285

    Content type: Research

    Published on:

  49. Fabry disease (FD) is a rare, X-linked, inherited lysosomal disease caused by absent or reduced α-galactosidase A activity. Due to the heterogeneity of disease presentation and progression, generic patient-rep...

    Authors: Esther Noël, Bertrand Dussol, Didier Lacombe, Najya Bedreddine, Alain Fouilhoux, Pierre Ronco, Delphine Genevaz, Soumeya Bekri, Albert Hagège, Frédérique Dupuis-Siméon, Valérie Derrien Ansquer, Dominique P. Germain and Olivier Lidove

    Citation: Orphanet Journal of Rare Diseases 2019 14:284

    Content type: Research

    Published on:

  50. 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

    Published on:

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172