Birt‐Hogg‐Dubé Syndrome: Germline Mutation in the (C)8 Mononucleotide Tract of the BHD Gene in a German Patient

By Lamberti Christof   Schweiger Nadine   Hartschuh Wolfgang   Schulz Tilman   Becker Petra   Küster Wolfgang   Rütten Arno   Sauerbruch Tilman   Ruzicka Thomas   Kruse Roland  

Acta Dermato-Venereologica, Vol. 85, Iss. 2, 2005-03 ,pp. : 172-173

Medical Journals Limited

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Connexin 26 (GJB2) Mutations in Two Swedish Patients with Atypical Vohwinkel (Mutilating Keratoderma plus Deafness) and KID Syndrome Both Extensively Treated with Acitretin

By Bondeson Marie-Louise   Nyström Anna-Maja   Gunnarsson Ulrika   Vahlquist Anders  

Acta Dermato-Venereologica, Vol. 86, Iss. 6, 2006-11 ,pp. : 503-508

Medical Journals Limited

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A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia

By Zhang X.-J.   Chen J.-J.   Yang S.   Cui Y.   Xiong X.-Y.   He P.-P.   Dong P.-L.   Xu S.-J.   Li Y.-B.   Zhou Q.   Wang Y.   Huang W.  

Journal of Dermatological Science, Vol. 32, Iss. 1, 2003-06 ,pp. : 11-17

Elsevier

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Erythrokeratoderma Variabilis without Connexin 31 or Connexin 30.3 Gene Mutation: Immunohistological, Ultrastructural and Genetic Studies

By Arita Ken   Akiyama Masashi   Tsuji Yukiko   Onozuka Takashi   Shimizu Hiroshi  

Acta Dermato-Venereologica, Vol. 83, Iss. 4, 2003-07 ,pp. : 266-270

Medical Journals Limited

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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

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