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Article

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.

The Journal of dermatology - 1 Aug 2023

Yamaguchi Natsuki, Kiniwa Yukiko, Hayashi Ryota, Abe Riichiro, Katsuie Shiho, Okuyama Ryuhei

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PMID: 36852523
DOI: 10.1111/1346-8138.16761

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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.PMID 36852523Read ↗

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 ↗

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

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

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

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

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

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

Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).Semantic proximity Read ↗

Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.Semantic proximity Read ↗

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

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