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Article

Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family.

The Journal of dermatology - 1 Aug 2017

Yoshida Kazue, Hayashi Ryota, Shimomura Yutaka, Niizeki Hironori

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PMID: 28406533
DOI: 10.1111/1346-8138.13868

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Research trail→

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Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family.PMID 28406533Read ↗

A novel U2HR non-synonymous mutation in a Chinese patient with Marie Unna Hereditary Hypotrichosis.Semantic proximity Read ↗

Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis.Semantic proximity Read ↗

Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes.Semantic proximity Read ↗

Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.Semantic proximity Read ↗

Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness.Semantic proximity Read ↗

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.Semantic proximity Read ↗

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosisSemantic proximity Read ↗

A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities.Semantic proximity Read ↗

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.Semantic proximity Read ↗

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