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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2012
Materias:
Clinical and Laboratory Investigations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3709244/
https://www.ncbi.nlm.nih.gov/pubmed/22515571
http://dx.doi.org/10.1111/j.1525-1470.2012.01757.x

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