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Article

Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair.

The Journal of dermatology - 1 Jan 2019

Asano Nobuyuki, Okita Tomoko, Yasuno Shuichiro, Yamaguchi Michiya, Kashiwagi Keisuke, Kanekura Takuro, Shimomura Yutaka

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Identifiers

PMID: 29974973
DOI: 10.1111/1346-8138.14534

Genes

LIPH

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair.PMID 29974973Read ↗

Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair.Semantic proximity Read ↗

Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair.Semantic proximity Read ↗

Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case.Semantic proximity Read ↗

Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.Semantic proximity Read ↗

Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

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

A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia.Semantic proximity Read ↗

Two cases of autosomal recessive woolly hair with LIPH gene mutations.Semantic proximity Read ↗

Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.Semantic proximity Read ↗

Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.Semantic proximity Read ↗

A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies.Semantic proximity Read ↗

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