HDR syndrome is an autosomal dominant disorder causeb by mutations of the GATA3 gene. The clinical features include hypoparathyroidism, sensorineural deafness, and renal dysplasia.
Sensorineural deafness may occur with GATA3 mutations.
|Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome|
Van Esch H et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome.
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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.
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OMIM.ORG articleOmim 146255