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Article

Compound heterozygous mutations in the hairless gene in atrichia with papular lesions.

The Journal of investigative dermatology - 1 Aug 2003

Paller Amy S, Varigos George, Metzker Arye, Bauer Robert C, Opie Jacinta, Martinez-Mir Amalia, Christiano Angela M, Zlotogorski Abraham

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PMID: 12880440
DOI: 10.1046/j.1523-1747.2003.12370.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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Compound heterozygous mutations in the hairless gene in atrichia with papular lesions.PMID 12880440Read ↗

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 ↗

Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria.Semantic proximity Read ↗

Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.Semantic proximity Read ↗

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

A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families.Semantic proximity Read ↗

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

Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene.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 resulting from a nonsense mutation within the human hairless gene.Semantic proximity Read ↗

Clinical and pathologic correlations in genetically distinct forms of atrichia.Semantic proximity Read ↗

Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.Semantic proximity Read ↗

Molecular basis of congenital atrichia in humans and mice.Semantic proximity Read ↗

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