Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Palmoplantar keratodermas (PPKs) are a group of disorders that are diagnostically and therapeutically problematic in dermatogenetics(1-3). Punctate PPKs are characterized by circumscribed hyperkeratotic lesions on palms and soles with considerable heterogeneity. In 18 families with autosomal dominan...

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Main Authors: Pohler, Elizabeth, Mamai, Ons, Hirst, Jennifer, Zamiri, Mozheh, Horn, Helen, Nomura, Toshifumi, Irvine, Alan D., Moran, Benvon E., Wilson, Neil J., Smith, Frances J. D., Goh, Christabelle S. M, Sandilands, Aileen, Cole, Christian, Barton, Geoffrey J., Evans, Alan T., Shimizu, Hiroshi, Akiyama, Masashi, Suehiro, Akihiro, Konohana, Izumi, Shboul, Mohammad, Teissier, Sebastien, Boussofara, Lobna, Denguezli, Mohamed, Saad, Ali, Gribaa, Moez, Dopping-Hepenstal, Patricia J., McGrath, John A, Brown, Sara J., Goudie, David R., Reversade, Bruno, Munro, Colin S., McLean, W. H. Irwin
Format: Artigo
Jezik:Inglês
Izdano: 2012
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3836166/
https://ncbi.nlm.nih.gov/pubmed/23064416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2444
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