Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.
Hernández
Alba M
AM
Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, Spain.
Villamar
Manuela
M
Roselló
Lidia
L
Moreno-Pelayo
Miguel A
MA
Moreno
Felipe
F
Del Castillo
Ignacio
I
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics*; D005260:Female; D050990:GATA3 Transcription Factor / Q000235:genetics*; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D008875:Middle Aged; D017354:Point Mutation; D017384:Sequence Deletion; D013030:Spain; D013577:Syndrome
D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human