Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction.
Chang
Bo
B
Department of Pediatrics, Toyama University, Sugitani, Toyama, Japan.
Momoi
Nobuo
N
Shan
Lishen
L
Mitomo
Masaki
M
Aoyagi
Yoshimichi
Y
Endo
Kisei
K
Takeda
Izumi
I
Chen
Rui
R
Xing
Yanlin
Y
Yu
Xianyi
X
Watanabe
Sayaka
S
Yoshida
Taketoshi
T
Kanegane
Hirokazu
H
Tsubata
Shinichi
S
Bowles
Neil E
NE
Ichida
Fukiko
F
Miyawaki
Toshio
T
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*
D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human