Loss of Kindlin-1 Causes Skin Atrophy and Lethal Neonatal Intestinal Epithelial Dysfunction

Kindler Syndrome (KS), characterized by transient skin blistering followed by abnormal pigmentation, skin atrophy, and skin cancer, is caused by mutations in the FERMT1 gene. Although a few KS patients have been reported to also develop ulcerative colitis (UC), a causal link to the FERMT1 gene mutat...

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Autors principals: Ussar, Siegfried, Moser, Markus, Widmaier, Moritz, Rognoni, Emanuel, Harrer, Christian, Genzel-Boroviczeny, Orsolya, Fässler, Reinhard
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2008
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2585060/
https://ncbi.nlm.nih.gov/pubmed/19057668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1000289
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