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Article

Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs.

PloS one - 1 Jan 2012

Olivry Thierry, Linder Keith E, Wang Ping, Bizikova Petra, Bernstein Joseph A, Dunston Stanley M, Paps Judy S, Casal Margret L

Abstract excerpt

In humans, congenital and hereditary skin diseases associated with epidermal cell-cell separation (acantholysis) are very rare, and spontaneous animal models of these diseases are exceptional. Our objectives are to report a novel congenital acantholytic dermatosis that developed in Chesapeake Bay retriever dogs. Nine affected puppies in four different litters were born to eight closely related clinically normal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22384142
DOI: 10.1371/journal.pone.0032072
PMCID: PMC3284538

Genes

PKP1

Provenance

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