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Article

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

European journal of dermatology : EJD - 1 Jan 2000

Paradisi Mauro, Massé Maureen, Martinez-Mir Amalia, Lam HaMut, Pedicelli Cristina, Christiano Angela M

Abstract excerpt

Atrichia with Papular Lesions (APL) is a rare autosomal recessive disorder characterized by complete hair loss that begins shortly after birth with the development of papular lesions on various regions of the body. Since the establishment of hairless (HR) gene mutations as the cause of this disorder, several patients previously assumed to suffer from alopecia universalis have been subsequently diagnosed with APL....

Topics

Adult
Alopecia
Diagnosis, Differential
Homozygote
Humans
Male
Mutation
Pedigree
RNA Splice Sites
Sequence Analysis, DNA
Skin Diseases, Papulosquamous

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 16172039

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Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions.PMID 16172039Read ↗

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

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Identification of mutations in the human hairless gene in two new families with congenital atrichia.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 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 in a 1-year-old girl resulting from a new homozygous nonsense pathogenic variant in the hairless gene.Semantic proximity Read ↗

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

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

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

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