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Article

Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene.

Archives of dermatological research - 1 Nov 2005

John Peter, Aslam Muhammad, Rafiq Muhammad Arshad, Amin-ud-din Muhammad, Haque Sayedul, Ahmad Wasim

Abstract excerpt

Atrichia with papular lesions (APL) is a rare autosomal recessive form of total alopecia, characterized by hair loss soon after birth and the development of papular lesions of keratin-filled cysts over extensive areas of the body. Mutations in the hairless (hr) gene, a putative single zinc finger transcription factor, have been implicated in the pathogenesis of this disorder. In the present study, we describe two...

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PMID: 16211417
DOI: 10.1007/s00403-005-0593-5

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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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Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene.PMID 16211417Read ↗

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Mutations in the hairless gene underlie APL in three families of Pakistani origin.Semantic proximity Read ↗

Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene.Semantic proximity Read ↗

Identification of mutations in the human hairless gene in two new families with congenital atrichia.Semantic proximity Read ↗

Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions.Semantic proximity Read ↗

Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.Semantic proximity Read ↗

Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias.Semantic proximity Read ↗

Atrichia with papular lesions in a 1-year-old girl resulting from a new homozygous nonsense pathogenic variant in the hairless gene.Semantic proximity Read ↗

Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family.Semantic proximity Read ↗

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