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Article

Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis.

International journal of dermatology - 1 Nov 2014

Yun Seok-Kweon, Cho Yong-Gon, Song Ki Hun, Hwang Su-Ran, Kim Yoon Sung-Joo, Choi Keon-Woo, Kim Han-Uk, Park Jin

Abstract excerpt

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant genodermatosis characterized by progressive non-scarring hair loss. Mutation of the U2HR gene, located in chromosome 8p21, is generally responsible for MUHH development. Until now, 17 mutations of U2HR have been identified from various ethnic backgrounds, but U2HR mutations have been identified mostly in Chinese families and only one Japanese...

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PMID: 24961381
DOI: 10.1111/ijd.12545

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis.PMID 24961381Read ↗

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

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

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

Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity.Semantic 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 ↗

Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3.Semantic proximity Read ↗

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

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

Update of recent findings in genetic hair disorders.Semantic proximity Read ↗

Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.Semantic proximity Read ↗

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.Semantic proximity Read ↗

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.Semantic proximity Read ↗

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