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Article

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

Clinical and experimental dermatology - 27 Apr 2023

Segovia Jen-Christina, Lin Yu-Chen, Aala Wilson, Dolendo Mae Concepcion J, McGrath John A, Hsu Chao-Kai, Guevara Bryan Edgar K

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PMID: 36757922
DOI: 10.1093/ced/llad005

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Research trail→

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Atrichia with papular lesions in a 1-year-old girl resulting from a new homozygous nonsense pathogenic variant in the hairless gene.PMID 36757922Read ↗

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

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

Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in 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 ↗

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

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

Novel mutation in the human hairless gene once more erroneously diagnosed and treated as 'alopecia areata'.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 ↗

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

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