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Article

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.

The journal of investigative dermatology. Symposium proceedings - 1 Oct 2005

McLean W H Irwin, Smith Frances J D, Cassidy Andrew J

Abstract excerpt

Keratins are the intermediate filament proteins specifically expressed by epithelial cells. The Human Genome Project has uncovered a total of 54 functional keratin genes that are differentially expressed in specific epithelial structures of the body, many of which involve the epidermis and its appendages. Pachyonychia congenita (PC) is a group of autosomal dominant genodermatoses affecting the nails, thick skin...

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Identifiers

PMID: 16250207
DOI: 10.1111/j.1087-0024.2005.10205.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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