Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

RESEARCH

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

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

Orphanet Journal of Rare Diseases 2019, 14:282 | Published on: 3 December 2019

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LETTER TO THE EDITOR

EGFR inhibition for metastasized cutaneous squamous cell carcinoma in dystrophic epidermolysis bullosa

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

Orphanet Journal of Rare Diseases 2019, 14:278 | Published on: 3 December 2019

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RESEARCH

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

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

Orphanet Journal of Rare Diseases 2019, 14:281 | Published on: 3 December 2019

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REVIEW

Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses

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

Orphanet Journal of Rare Diseases 2019, 14:279 | Published on: 3 December 2019

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RESEARCH

Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

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…

Orphanet Journal of Rare Diseases 2019, 14:280 | Published on: 3 December 2019

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