Condition: Barakat syndrome
rs104894163 in
GATA3 gene and
Barakat syndrome
PMID 10935639 2000 GATA3 haplo-insufficiency causes human HDR syndrome.
PMID 11389161 2001 GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
PMID 26514990 2015 A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.