A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.
Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, 480-1195, Japan.
T
T
Yanagishita
K
K
Sugiura
Y
Y
Kawamoto
K
K
Ito
Y
Y
Marubashi
N
N
Taguchi
M
M
Akiyama
D
D
Watanabe
D000074183:ATPases Associated with Diverse Cellular Activities; D002675:Child, Preschool; D014450:Electron Transport Complex III / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006201:Hair Diseases / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D028361:Mitochondrial Diseases / Q000151:congenital* / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*
C435491:BCS1L protein, human; D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III