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

Dermatology online journal - 15 Jan 2011

Nucara Stefania, Colao Emma, Mangone Graziella, Baudi Francesco, Fabiani Fernanda, Nocera Donatella, Passafaro Giuseppe, Longo Teresa, Laria Anna Elisa, Malatesta Paola, Amato Rosario, Trapasso Francesco, Perrotti Nicola

Abstract excerpt

Mutations in the gene HR coding for the hairless protein are associated with atrichia with papular lesions (APL), an autosomal recessive form of alopecia universalis that is characterized by generalized scalp and body atrichia with papular lesions. We here describe a South Italian family of ancient Albanian heritage. The full phenotype with complete atrichia was expressed in 2 siblings, whereas the parents and...

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PMID: 21272494

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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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Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.PMID 21272494Read ↗

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

Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria.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 two Pakistani consanguineous families resulting from mutations in the human hairless gene.Semantic proximity Read ↗

Atrichia with papular lesions resulting from a nonsense mutation within the human 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 ↗

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

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

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

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