Novel Mutation in GJB4 Gene (Connexin 30.3) in a Family with Erythrokeratodermia Variabilis

By Sbidian Emilie   Bousseloua Norredine   Jonard Laurence   Leclerc-Mercier Stéphanie   Bodemer Christine   Hadj-Rabia Smail  

Acta Dermato-Venereologica, Vol. 93, Iss. 2, 2013-03 ,pp. : 195-197

Medical Journals Limited

Access to resources Recommend Favorite

Homozygous Missense Mutation in the ECM1 Gene in Chinese Siblings with Lipoid Proteinosis

By Han Beibei   Zhang Xinglian   Liu Qiang   Chen Xixue   Zhu Xuejun  

Acta Dermato-Venereologica, Vol. 87, Iss. 5, 2007-09 ,pp. : 387-389

Medical Journals Limited

Access to resources Recommend Favorite

A newly identified missense mutation of the EDA1 gene in a Hungarian patient with Christ–Siemens–Touraine syndrome

By Kinyó Ágnes   Vályi Péter   Farkas Katalin   Nagy Nikoletta   Gergely Brigitta   Tripolszki Kornélia   Török Dóra   Bata-Csörgő Zsuzsanna   Kemény Lajos   Széll Márta  

Archives of Dermatological Research, Vol. 306, Iss. 1, 2014-01 ,pp. : 97-100

Springer Publishing Company

Access to resources Recommend Favorite

A Case of Almost Unilateral Focal Dermal Hypoplasia Resulting From a Novel Mutation in the PORCN Gene

By Asano Masayuki   Fujimura Taku   Wakusawa Chihiro   Aoki Yoko   Matsubara Yoichi   Aiba Setsuya  

Acta Dermato-Venereologica, Vol. 93, Iss. 1, 2013-01 ,pp. : 120-121

Medical Journals Limited

Access to resources Recommend Favorite

Familial Erythrokeratodermia Variabilis with Pustular Lesions: A New Variant?

By Zhang Li   Huo Wei   Gao Xing-Hua   Ma Lei   Xiu Yuhong   Zheng Song   Hong Yuxiao   Chen Hong-Duo  

Acta Dermato-Venereologica, Vol. 90, Iss. 3, 2010-05 ,pp. : 274-278

Medical Journals Limited

Access to resources Recommend Favorite