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Article

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

Acta dermato-venereologica - 1 Jan 2008

Yip Leona, Horev Liran, Sinclair Rodney, Zlotogorski Abraham

Abstract excerpt

Atrichia with papular lesions is a rare autosomal recessive condition characterized by complete irreversible hair loss during the first months of life and papules that appear during early childhood. Atrichia with papular lesions is frequently misdiagnosed as alopecia universalis, despite increasing reports of its prevalence and the presence of well-defined diagnostic criteria. Most cases of atrichia with papular...

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PMID: 18709303
DOI: 10.2340/00015555-0466

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria.PMID 18709303Read ↗

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

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

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

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

Compound heterozygous mutations in the hairless gene in atrichia with papular lesions.Semantic proximity Read ↗

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

Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular LesionsSemantic proximity Read ↗

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

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 ↗

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