Clinical feature: 

Definition: HDR syndrome is an autosomal dominant disorder causeb by mutations of the GATA3 gene. The clinical features include hypoparathyroidism, sensorineural deafness, and renal dysplasia.

Literature: 

Barakat AY et al. (1977) Familial nephrosis, nerve deafness, and hypoparathyroidism.
Bernardini L et al. (2009) HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.
Bilous RW et al. (1992) Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.
Ferraris S et al. (2009) HDR syndrome: a novel "de novo" mutation in GATA3 gene.
Fujimoto S et al. (1999) Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.
Hasegawa T et al. (1997) HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).
Hernández AM et al. (2007) 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.
Lichtner P et al. (2000) An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.
Moldovan O et al. (2011) A new case of HDR syndrome with severe female genital tract malformation: comment on "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" by Hernández et al.
Muroya K et al. (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
Shaw NJ et al. (1991) Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.
Sun Y et al. (2009) Germinal mosaicism of GATA3 in a family with HDR syndrome.
Van Esch H et al. (1999) Partial DiGeorge syndrome in two patients with a 10p rearrangement.
Van Esch H et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome.
Yumita S et al. (1986) Familial idiopathic hypoparathyroidism and progressive sensorineural deafness.