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, Hiroyuki Takama, Nobuyuki Hamajima, 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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