Extensive Postzygotic Mosaicism for a Novel Keratin 10 Mutation in Epidermolytic Ichthyosis

By Kiritsi Dimitra   Nanda Arti   Kohlhase Jürgen   Bernhard Carsten   Bruckner-Tuderman Leena   Happle Rudolf   Has Cristina  

Acta Dermato-Venereologica, Vol. 94, Iss. 3, 2014-05 ,pp. : 346-348

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A de Novo Mutation in the Keratin 9 Gene in a Family with Epidermolytic Palmoplantar Keratoderma from Northern Sweden

By Wennerstrand Lena   Häggbom Klingberg Melker   Hofer Per-Åke   Lundström Anita   Lind Lisbet  

Acta Dermato-Venereologica, Vol. 83, Iss. 2, 2003-01 ,pp. : 135-140

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Point Mutation in the STS Gene in a Severely Affected Patient with X-linked Recessive Ichthyosis

By Gonzalez-Huerta Luz M.   Messina-Baas Olga M.   Toral-Lopez Jaime   Rivera-Vega María R.   Kofman-Alfaro Susana   Cuevas-Covarrubias Sergio A.  

Acta Dermato-Venereologica, Vol. 86, Iss. 1, 2006-01 ,pp. : 78-79

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Novel N160I Mutation of Keratin 9 in a Large Pedigree from Hungary with Epidermolytic Palmoplantar Keratoderma

By Csikós Márta   Holló Péter   Becker Krisztina   Rácz Emöke   Horváth Attila   Kárpáti Sarolta  

Acta Dermato-Venereologica, Vol. 83, Iss. 4, 2003-07 ,pp. : 303-305

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A Glutamate to Lysine Mutation at the End of 2B Rod Domain of Keratin 2e Gene in Ichthyosis Bullosa of Siemens

By Yang Jun-Mo   Lee Eun-So   Kang Hyo-Jung   Choi Gwang-Seong   Yoneda Kozo   Jung Seung-Yong   Park Ki-Beom   Steinert Peter   Lee Eil-Soo  

Acta Dermato-Venereologica, Vol. 78, Iss. 6, 1998-10 ,pp. : 417-419

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