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

Archives of dermatological research - 1 Jun 2007

Betz Regina C, Indelman Margarita, Pforr Jana, Schreiner Felix, Bauer Ralf, Bergman Reuven, Lentze Michael J, Nöthen Markus M, Cichon Sven, Sprecher Eli

Abstract excerpt

Congenital atrichia (AUC) is a form of isolated alopecia with an autosomal recessive mode of inheritance. Patients are born with normal hair but this is shed almost completely during the first weeks or months of life and never regrows. In many families the development of papular lesions is noted as an additional phenotypic feature, which defines a related phenotype designated as atrichia with papular lesions...

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PMID: 17372750
DOI: 10.1007/s00403-007-0747-8

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Identification of mutations in the human hairless gene in two new families with congenital atrichia.PMID 17372750Read ↗

Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family.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: a report of three novel human hairless gene mutations and a revision of diagnostic criteria.Semantic proximity Read ↗

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

Mutations in the hairless gene underlie APL in three families of Pakistani origin.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 new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.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 ↗

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

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

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