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Article

Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.

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

Bazzi Hisham, Martinez-Mir Amalia, Kljuic Ana, Christiano Angela M

Abstract excerpt

A newly defined form of inherited hair loss, named localized autosomal recessive hypotrichosis (LAH, OMIM 607903), was recently described in the literature and shown to be linked to chromosome 18. A large, intragenic deletion in the desmoglein 4 gene (DSG4) as the underlying mutation in several unrelated families of Pakistani origin. LAH is an autosomal recessive form of hypotrichosis affecting the scalp, trunk,...

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Share to Chromosomes, Human, Pair 18
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16382669
DOI: 10.1111/j.1087-0024.2005.10110.x

Genes

DSG4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.PMID 16382669Read ↗

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