title: HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.
authors: IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.
authors: L
authors: L
authors: Bernardini
authors: L
authors: L
authors: Sinibaldi
authors: A
authors: A
authors: Capalbo
authors: I
authors: I
authors: Bottillo
authors: B
authors: B
authors: Mancuso
authors: B
authors: B
authors: Torres
authors: A
authors: A
authors: Novelli
authors: M C
authors: MC
authors: Digilio
authors: B
authors: B
authors: Dallapiccola
mesh_terms: D003638:Deafness / Q000150:complications* / Q000235:genetics*; D005260:Female; D050990:GATA3 Transcription Factor / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications* / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D013577:Syndrome
chemical_list: D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human