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Article

A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.

American journal of human genetics - 1 Oct 2009

Ayub Muhammad, Basit Sulman, Jelani Musharraf, Ur Rehman Fazal, Iqbal Muhammad, Yasinzai Masoom, Ahmad Wasim

Abstract excerpt

Desmosomes are the major players in epidermis and cardiac muscles and contribute to intercellular binding and maintenance of tissue integrity. Two important constituents of desmosomes are transmembrane cadherins named desmogleins and desmocollins. The critical role of these desmosomal proteins in...

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Identifiers

PMID: 19765682
DOI: 10.1016/j.ajhg.2009.08.015
PMCID: PMC2756559

Genes

DSC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19765682-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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