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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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313570850

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

About this item

Full title

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

Publisher

United States: Public Library of Science

Journal title

PLoS genetics, 2008-12, Vol.4 (12), p.e1000289-e1000289

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

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 mutation is unknown. The FERMT1 gene product belongs to...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1313570850

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313570850

Other Identifiers

ISSN

1553-7404,1553-7390

E-ISSN

1553-7404

DOI

10.1371/journal.pgen.1000289

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