Germinal mosaicism of GATA3 in a family with HDR syndrome.
Sun
Yue
Y
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Xia
Weibo
W
Xing
Xiaoping
X
Li
Mei
M
Wang
Ou
O
Jiang
Yan
Y
Pei
Yu
Y
Ye
Ping
P
Liu
Huaicheng
H
Hu
Yingying
Y
Meng
Xunwu
X
Zhou
Xueying
X
D000293:Adolescent; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D002681:China; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D050990:GATA3 Transcription Factor / Q000235:genetics*; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D013577:Syndrome
D018389:Codon, Nonsense; D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human