title: Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction.
authors.affiliation: Department of Pediatrics, Toyama University, Sugitani, Toyama, Japan.
authors.forename: Bo
authors.initials: B
authors.lastname: Chang
authors.forename: Nobuo
authors.initials: N
authors.lastname: Momoi
authors.forename: Lishen
authors.initials: L
authors.lastname: Shan
authors.forename: Masaki
authors.initials: M
authors.lastname: Mitomo
authors.forename: Yoshimichi
authors.initials: Y
authors.lastname: Aoyagi
authors.forename: Kisei
authors.initials: K
authors.lastname: Endo
authors.forename: Izumi
authors.initials: I
authors.lastname: Takeda
authors.forename: Rui
authors.initials: R
authors.lastname: Chen
authors.forename: Yanlin
authors.initials: Y
authors.lastname: Xing
authors.forename: Xianyi
authors.initials: X
authors.lastname: Yu
authors.forename: Sayaka
authors.initials: S
authors.lastname: Watanabe
authors.forename: Taketoshi
authors.initials: T
authors.lastname: Yoshida
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Shinichi
authors.initials: S
authors.lastname: Tsubata
authors.forename: Neil E
authors.initials: NE
authors.lastname: Bowles
authors.forename: Fukiko
authors.initials: F
authors.lastname: Ichida
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: D000217:Acyltransferases; D044466:Asian People / Q000235:genetics; D056889:Barth Syndrome / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics; D006801:Humans; D007223:Infant; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D009154:Mutation; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human