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Article

Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.

The Journal of investigative dermatology - 1 Jul 2007

Wajid Muhammad, Bazzi Hisham, Rockey Jonathan, Lubetkin Jillian, Zlotogorski Abraham, Christiano Angela M

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 17392831
DOI: 10.1038/sj.jid.5700791

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Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.PMID 17392831Read ↗

Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.Semantic proximity Read ↗

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A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.Semantic proximity Read ↗

Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.Semantic proximity Read ↗

[Localised autosomal recessive hypotrichosis and recurrent intragenic deletion of the desmoglein 4 gene: good intercellular adhesion is a prerequisite for development of hair follicles].Semantic proximity Read ↗

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.Semantic proximity Read ↗

Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans.Semantic proximity Read ↗

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.Semantic proximity Read ↗

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.Semantic proximity Read ↗

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