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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Yang, Catherine S, Lu, Yin, Farhi, Anita, Nelson-Williams, Carol, Kashgarian, Michael, Glusac, Earl J, Lifton, Richard P, Antaya, Richard J, Choate, Keith A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Blackwell Publishing Ltd 2012
Aiheet:
Clinical and Laboratory Investigations
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia