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

Clinical and experimental dermatology - 1 Mar 2014

Li Q, Liu L H, Chang R X, Pan G B, Chen G, Gao M, Cai L Q, Wang P G, Pimentel J D, Pittelkow M R, Yang S, Zhang X J

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PMID: 24236410
DOI: 10.1111/ced.12245

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Related research

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Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes.PMID 24236410Read ↗

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 ↗

Exome sequencing identified a missense mutation of EPS8L3 in 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 ↗

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

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

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.Semantic proximity Read ↗

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

Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.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 ↗

First case report of Charcot-Marie-Tooth disease type 2CC with a frameshift mutation of NEFH gene in Greece.Semantic proximity Read ↗

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