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Article

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

PloS one - 1 Jan 2014

Tanahashi Kana, Sugiura Kazumitsu, Kono Michihiro, Takama Hiromichi, Hamajima Nobuyuki, Akiyama Masashi

Abstract excerpt

Mutations in LIPH cause of autosomal recessive woolly hair/hypotrichosis (ARWH), and the 2 missense mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn) are considered prevalent founder mutations for ARWH in the Japanese population. To reveal genotype/phenotype correlations in ARWH cases in Japan and the haplotypes in 14 Japanese patients from 14 unrelated Japanese families. 13 patients had woolly hair,...

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Source

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Identifiers

PMID: 24586639
DOI: 10.1371/journal.pone.0089261
PMCID: PMC3929696

Genes

LIPH

Variants

Provenance

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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Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.PMID 24586639Read ↗

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