HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.
Bernardini
L
L
IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.
Sinibaldi
L
L
Capalbo
A
A
Bottillo
I
I
Mancuso
B
B
Torres
B
B
Novelli
A
A
Digilio
M C
MC
Dallapiccola
B
B
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
D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human