Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix

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John Wiley & Sons Inc

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Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis

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John Wiley & Sons Inc

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A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency

By Remes Anne   Filppula Sirpa   Rantala Heikki   Leisti Jaakko   Ruokonen Aimo   Sharma Satyan   Juffer André   Hiltunen J.  

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Springer Publishing Company

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Mutations in the lipase‐H gene causing autosomal recessive hypotrichosis and woolly hair

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John Wiley & Sons Inc

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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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John Wiley & Sons Inc

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