title: 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.
authors.affiliation: Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, Spain.
authors.forename: Alba M
authors.initials: AM
authors.lastname: Hernández
authors.forename: Manuela
authors.initials: M
authors.lastname: Villamar
authors.forename: Lidia
authors.initials: L
authors.lastname: Roselló
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Moreno-Pelayo
authors.forename: Felipe
authors.initials: F
authors.lastname: Moreno
authors.forename: Ignacio
authors.initials: I
authors.lastname: Del Castillo
mesh_terms: 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
chemical_list: D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human