[HDR syndrome (GATA3 haploinsufficiency syndrome)].
Mochizuki
Takahiro
T
Department of Pediatrics, Child Health and Medical Center, Osaka City General Hospital.
Fujita
Keinosuke
K
Yamada
Hiroshi
H
Ogata
Tsutomu
T
D003937:Diagnosis, Differential; D050990:GATA3 Transcription Factor / Q000172:deficiency* / Q000235:genetics*; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D021782:Multicystic Dysplastic Kidney / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D011379:Prognosis; D013577:Syndrome
D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human