title: First Japanese case of congenital generalized hypertrichosis with a copy number variation on chromosome 17q24.
authors: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors: Ryota
authors: R
authors: Hayashi
authors: Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
authors: Kazue
authors: K
authors: Yoshida
authors: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors: Riichiro
authors: R
authors: Abe
authors: Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
authors: Hironori
authors: H
authors: Niizeki
authors: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. Electronic address: yshimo@med.niigata-u.ac.jp.
authors: Yutaka
authors: Y
authors: Shimomura
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D056915:DNA Copy Number Variations; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D018859:Hair Follicle / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D006983:Hypertrichosis / Q000151:congenital* / Q000235:genetics; D007223:Infant; D007564:Japan; D010375:Pedigree; D055758:SOX9 Transcription Factor / Q000235:genetics / Q000378:metabolism
chemical_list: C471294:ABCA5 protein, human; D018528:ATP-Binding Cassette Transporters; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human