title: Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.
authors.affiliation: Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Shigematsu
authors.affiliation: 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, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Kazue
authors.initials: K
authors.lastname: Yoshida
authors.affiliation: Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Ai
authors.initials: A
authors.lastname: Shimizu
authors.affiliation: Departments of Neurology, Tokyo, Japan.
authors.forename: Masaya
authors.initials: M
authors.lastname: Kubota
authors.affiliation: Departments of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Manabu
authors.initials: M
authors.lastname: Komori
authors.affiliation: 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: Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Hironori
authors.initials: H
authors.lastname: Niizeki
mesh_terms: D000074182:AAA Domain / Q000235:genetics*; D000074183:ATPases Associated with Diverse Cellular Activities / Q000235:genetics*; D002648:Child; D014450:Electron Transport Complex III / Q000235:genetics*; D005260:Female; D006197:Hair / Q000473:pathology; D006201:Hair Diseases / Q000235:genetics* / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D028361:Mitochondrial Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D017384:Sequence Deletion
chemical_list: C435491:BCS1L protein, human; D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III