title: 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.
authors.affiliation: Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Taisuke
authors.initials: T
authors.lastname: Ito
authors.affiliation: Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.|Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Shimomura
authors.affiliation: Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.|Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Ryota
authors.initials: R
authors.lastname: Hayashi
authors.affiliation: Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Tokura
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006201:Hair Diseases / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital / Q000235:genetics*; D007057:Ichthyosis; D008049:Lipase / Q000235:genetics*; D020125:Mutation, Missense
chemical_list: C504173:LIPC protein, human; D008049:Lipase