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  1. 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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  2. 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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  3. 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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  4. 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

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  5. 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

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  6. 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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  7. 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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  8. 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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  9. 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

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  10. 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

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  11. 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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  12. 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

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  13. 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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  14. 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

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  15. 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

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  16. 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

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  17. 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

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  18. 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

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  19. 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

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  20. 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

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  21. 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

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  22. 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

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  23. 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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  24. 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

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  25. 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

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  26. 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:

  27. Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX...

    Authors: Qing-Qing Tao, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong, Wang Ni and Zhi-Ying Wu

    Citation: Orphanet Journal of Rare Diseases 2019 14:282

    Content type: Research

    Published on:

  28. 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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  29. Genetic testing is proposed for suspected cases of monogenic pulmonary fibrosis, but clinicians and patients need specific information and recommendation about the related diagnosis and management issues. Beca...

    Authors: Raphael Borie, Caroline Kannengiesser, Laurent Gouya, Clairelyne Dupin, Serge Amselem, Ibrahima Ba, Vincent Bunel, Philippe Bonniaud, Diane Bouvry, Aurélie Cazes, Annick Clement, Marie Pierre Debray, Philippe Dieude, Ralph Epaud, Pascale Fanen, Elodie Lainey…

    Citation: Orphanet Journal of Rare Diseases 2019 14:280

    Content type: Research

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  30. Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the di...

    Authors: Amjad Samara, Rachel Rahn, Olga Neyman, Ki Yun Park, Ahmad Samara, Bess Marshall, Joseph Dougherty and Tamara Hershey

    Citation: Orphanet Journal of Rare Diseases 2019 14:279

    Content type: Review

    Published on:

  31. 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

    Published on:

  32. Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprinted MAGEL2 located in 15q11-q13. Yet, precise pathomechanism remains to be...

    Authors: Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada and Shinji Saitoh

    Citation: Orphanet Journal of Rare Diseases 2019 14:277

    Content type: Research

    Published on:

  33. Inherited muscle diseases are a group of rare heterogeneous muscle conditions with great impact on quality of life, for which variable prevalence has previously been reported, probably due to case selection bi...

    Authors: Inmaculada Pagola-Lorz, Esther Vicente, Berta Ibáñez, Laura Torné, Itsaso Elizalde-Beiras, Virginia Garcia-Solaesa, Fermín García, Josu Delfrade and Ivonne Jericó

    Citation: Orphanet Journal of Rare Diseases 2019 14:276

    Content type: Research

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  34. Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases and is associated with hormonal and metabolic abnormalities, including nutritional status disorders, hypermetabolic state with high ...

    Authors: Małgorzata Kałużna, Isabella Trzeciak, Katarzyna Ziemnicka, Maciej Machaczka and Marek Ruchała

    Citation: Orphanet Journal of Rare Diseases 2019 14:275

    Content type: Review

    Published on:

  35. Adamantiades-Behçet’s Disease (ABD) is an immunological recurrent systemic vasculitis with a chronic course. We investigated the predictors of long-term flare-ups, poor outcomes and event-free survival in Chin...

    Authors: Liang Zhang, Yun Tian, Jing-Fen Ye, Chen-Hong Lin and Jian-Long Guan

    Citation: Orphanet Journal of Rare Diseases 2019 14:274

    Content type: Research

    Published on:

  36. The objective was to deepen the understanding of the causes of individual variability in phenylketonuria (PKU) by investigating which metabolic variables are most important for predicting cognitive outcomes (P...

    Authors: Cristina Romani, Filippo Manti, Francesca Nardecchia, Federica Valentini, Nicoletta Fallarino, Claudia Carducci, Sabrina De Leo, Anita MacDonald, Liana Palermo and Vincenzo Leuzzi

    Citation: Orphanet Journal of Rare Diseases 2019 14:273

    Content type: Research

    Published on:

  37. Congenital Pulmonary Airway Malformation (CPAM) has an estimated prevalence between 0.87 and 1.02/10,000 live births and little is know about their pathogenesis. To improve our knowledge on these rare malforma...

    Authors: C. Barazzone-Argiroffo, J. Lascano Maillard, I. Vidal, M. L. Bochaton-Piallat, S. Blaskovic, Y. Donati, B. E. Wildhaber, A.-L. Rougemont, C. Delacourt and I. Ruchonnet-Métrailler

    Citation: Orphanet Journal of Rare Diseases 2019 14:272

    Content type: Research

    Published on:

  38. 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

    Published on:

  39. Hirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and...

    Authors: Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello and Isabella Ceccherini

    Citation: Orphanet Journal of Rare Diseases 2019 14:270

    Content type: Research

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  40. Poland Syndrome (PS) is a rare congenital malformation involving functional and aesthetic impairments. Early diagnosis and timely therapeutic approaches play an important role in improving the quality of life ...

    Authors: Ilaria Baldelli, Fabio Gallo, Marco Crimi, Piero Fregatti, Lorenzo Mellini, Pierluigi Santi and Rosagemma Ciliberti

    Citation: Orphanet Journal of Rare Diseases 2019 14:269

    Content type: Research

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  41. Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a rare type of leukodystrophy characterized by astrocyte and myelin vacuolization, epilepsy and early-onset macrocephaly. MLC is caused by mu...

    Authors: Carla Pérez-Rius, Mónica Folgueira, Xabier Elorza-Vidal, A. Alia, Maja B. Hoegg-Beiler, Muhamed N. H. Eeza, María Luz Díaz, Virginia Nunes, Alejandro Barrallo-Gimeno and Raúl Estévez

    Citation: Orphanet Journal of Rare Diseases 2019 14:268

    Content type: Research

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  42. The original version of this article [1] unfortunately included an error to an author’s name. Paul Arundel was inadvertently presented as Paul Arunde.

    Authors: Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton…

    Citation: Orphanet Journal of Rare Diseases 2019 14:267

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2019 14:139

  43. Primary neuroendocrine carcinomas of the gallbladder and biliary tract are rare, with pure large cell neuroendocrine carcinomas (LCNEC) being exceedingly rare and with a particularly poor prognosis.

    Authors: Riva Raiker, Aman Chauhan, Hassan Hasanein, Grant Burkeen, Millicent Horn, Janeesh Veedu, Cory Vela, Susanne Arnold, Jill Kolesar, Lowell Anthony, B. Mark Evers and Michael Cavnar

    Citation: Orphanet Journal of Rare Diseases 2019 14:266

    Content type: Review

    Published on:

  44. Gain-of-function pathogenic variants of the Erb-B2 receptor tyrosine kinase 3 (ERBB3) gene contribute to the occurrence and development of a variety of human carcinomas through activation of phosphatidylinositol ...

    Authors: Niu Li, Yufei Xu, Yi Zhang, Guoqiang Li, Tingting Yu, Ruen Yao, YunFang Zhou, Yiping Shen, Lei Yin, Xiumin Wang and Jian Wang

    Citation: Orphanet Journal of Rare Diseases 2019 14:265

    Content type: Research

    Published on:

  45. The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encou...

    Authors: Ingrid M. B. H. van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, Guglielmina Pepe, Barbara Mulder, Zoltan Szabolcs, Gisela Teixidó-Turà, Leema Robert, Yaso Emmanuel…

    Citation: Orphanet Journal of Rare Diseases 2019 14:264

    Content type: Position statement

    Published on:

  46. To investigate differences in cardiac manifestations of patients affected by laminopathy, according to the presence or absence of neuromuscular involvement at presentation.

    Authors: Raffaello Ditaranto, Giuseppe Boriani, Mauro Biffi, Massimiliano Lorenzini, Maddalena Graziosi, Matteo Ziacchi, Ferdinando Pasquale, Giovanni Vitale, Alessandra Berardini, Rita Rinaldi, Giovanna Lattanzi, Luciano Potena, Sofia Martin Suarez, Maria Letizia Bacchi Reggiani, Claudio Rapezzi and Elena Biagini

    Citation: Orphanet Journal of Rare Diseases 2019 14:263

    Content type: Research

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  47. Faces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognit...

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

    Citation: Orphanet Journal of Rare Diseases 2019 14:262

    Content type: Research

    Published on:

  48. Neurofibromatosis type 1 (NF1) is characterized by an extreme clinical variability both within and between families that cannot be explained solely by the nature of the pathogenic NF1 gene mutations. A proposed m...

    Authors: Antonia Assunto, Ursula Ferrara, Alessandro De Luca, Claudia Pivonello, Lisa Lombardo, Annapina Piscitelli, Cristina Tortora, Valentina Pinna, Paola Daniele, Rosario Pivonello, Maria Giovanna Russo, Giuseppe Limongelli, Annamaria Colao, Marco Tartaglia, Pietro Strisciuglio and Daniela Melis

    Citation: Orphanet Journal of Rare Diseases 2019 14:261

    Content type: Research

    Published on: