A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome.
Kobayashi
H
H
Kasahara
M
M
Hino
M
M
Yoshimura
H
H
Takahara
S
S
Ikeda
K
K
Son
C
C
Iwakura
T
T
Yoshimoto
A
A
Ishihara
T
T
Ogawa
Y
Y
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D050990:GATA3 Transcription Factor / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D021782:Multicystic Dysplastic Kidney / Q000235:genetics*; D013577:Syndrome
D050990:GATA3 Transcription Factor