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Article

Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.

Clinical and experimental dermatology - 1 Dec 2009

Düzenli S, Redler S, Müller M, Polat M, Dogruer D, Pasternack S M, Betz R C

Abstract excerpt

Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of isolated alopecia. The disorder is characterized by the absence or scarcity of scalp hair, eyebrows and eyelashes at birth. Coarse wiry hair begins to grow during childhood, but this is followed by progressive hair loss,...

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Identifiers

PMID: 20055871
DOI: 10.1111/j.1365-2230.2009.03644.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20055871-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.PMID 20055871Read ↗

Identification of a novel U2HR mutation in a Korean woman 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 ↗

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 ↗

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 ↗

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

Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.Semantic proximity Read ↗

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

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

Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.Semantic proximity Read ↗

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