KID Syndrome: Report of a Scandinavian Patient with Connexin‐26 Gene Mutation

By Bygum Anette   Betz Regina   Kragballe Knud   Steiniche Torben   Peeters Nils   Wuyts Wim   Nöthen Markus  

Acta Dermato-Venereologica, Vol. 85, Iss. 2, 2005-03 ,pp. : 152-155

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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

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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

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A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome

By Okamoto Osamu  

Archives of Dermatological Research, Vol. 300, Iss. 9, 2008-10 ,pp. : 525-529

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Skin Abnormalities in CHILD Syndrome Successfully Treated with Pathogenesis-based Therapy

By Christiansen Alexandra Golabek   Koppelhus Uffe   Sommerlund Mette  

Acta Dermato-Venereologica, Vol. 95, Iss. 6, 2015-06 ,pp. : 752-753

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