An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred

Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring, most prominently on the extensor extremities. Remarkably, identical mutations in COL7A1, which encodes...

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Detalhes bibliográficos
Main Authors: Yang, Catherine S, Lu, Yin, Farhi, Anita, Nelson-Williams, Carol, Kashgarian, Michael, Glusac, Earl J, Lifton, Richard P, Antaya, Richard J, Choate, Keith A
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2012
Assuntos:
Clinical and Laboratory Investigations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3709244/
https://ncbi.nlm.nih.gov/pubmed/22515571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1525-1470.2012.01757.x
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