Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

    February 2014 in “ PloS one
    Kana Tanahashi, Kazumitsu Sugiura, Michihiro Kono … Masashi Akiyama
    Studysummary This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
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    Research cited in this study 2

    1. Prevalent Founder Mutation c.736T>A of LIPH in Autosomal Recessive Woolly Hair of Japanese Leads to Variable Severity of Hypotrichosis in Adulthood JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology · 2012
    2. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006