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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Dades bibliogràfiques
Autors principals: Yang, Catherine S, Lu, Yin, Farhi, Anita, Nelson-Williams, Carol, Kashgarian, Michael, Glusac, Earl J, Lifton, Richard P, Antaya, Richard J, Choate, Keith A
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Publishing Ltd 2012
Matèries:
Clinical and Laboratory Investigations
Accés en línia: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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