Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction.

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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Bibliographic Details
Main Authors: Siegfried Ussar, Markus Moser, Moritz Widmaier, Emanuel Rognoni, Christian Harrer, Orsolya Genzel-Boroviczeny, Reinhard Fässler
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2008-12-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2585060?pdf=render

Internet

http://europepmc.org/articles/PMC2585060?pdf=render

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