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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
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Y. Shimomura
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Y. Tokura
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T. Ito
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R. Hayashi
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