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

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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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Novel and Recurrent KIND1 Mutations in Two Patients with Kindler Syndrome and Severe Mucosal Involvement

By Mansur Tülin A.   Elcioglu Nursel H.   Aydıngöz Ikbal E.   Akkaya Deniz A.   Serdar Zehra Asiran   Herz Corinna   Bruckner-Tuderman Leena   Has Cristina  

Acta Dermato-Venereologica, Vol. 87, Iss. 6, 2007-10 ,pp. : 563-565

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Lethal Form of Keratitis–Ichthyosis–Deafness Syndrome Caused by the GJB2 Mutation p. Ser17Phe

By Mazereeuw-Hautier Juliette   Chiaverini Christine   Jonca Nathalie   Bieth Eric   Dreyfus Isabelle   Maza Aude   Cardot-Leccia Nathalie   Perrin Christophe   Lacour Jean-Philippe  

Acta Dermato-Venereologica, Vol. 94, Iss. 5, 2014-09 ,pp. : 591-592

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An Unusual Missense Mutation in the GJB3 Gene Resulting in Severe Erythrokeratodermia Variabilis

By Glatz Martin   van Steensel Maurice A. M.   van Geel Michel   Steijlen Peter M.   Wolf Peter  

Acta Dermato-Venereologica, Vol. 91, Iss. 6, 2011-11 ,pp. : 714-715

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