title: A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome.
authors.forename: H
authors.initials: H
authors.lastname: Kobayashi
authors.forename: M
authors.initials: M
authors.lastname: Kasahara
authors.forename: M
authors.initials: M
authors.lastname: Hino
authors.forename: H
authors.initials: H
authors.lastname: Yoshimura
authors.forename: S
authors.initials: S
authors.lastname: Takahara
authors.forename: K
authors.initials: K
authors.lastname: Ikeda
authors.forename: C
authors.initials: C
authors.lastname: Son
authors.forename: T
authors.initials: T
authors.lastname: Iwakura
authors.forename: A
authors.initials: A
authors.lastname: Yoshimoto
authors.forename: T
authors.initials: T
authors.lastname: Ishihara
authors.forename: Y
authors.initials: Y
authors.lastname: Ogawa
mesh_terms: 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
chemical_list: D050990:GATA3 Transcription Factor