HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

Clin Genet. 2009 Jul;76(1):117-9. doi: 10.1111/j.1399-0004.2009.01170.x.

Authors

L Bernardini¹, L Sinibaldi, A Capalbo, I Bottillo, B Mancuso, B Torres, A Novelli, M C Digilio, B Dallapiccola

Affiliation

¹ IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.

PMID: 19659764
DOI: 10.1111/j.1399-0004.2009.01170.x

No abstract available

Publication types

Case Reports
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Deafness / complications*
Deafness / genetics*
Female
GATA3 Transcription Factor / genetics*
Gene Duplication*
Humans
Hypoparathyroidism / complications*
Hypoparathyroidism / genetics*
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Kidney / abnormalities*
Syndrome

Substances

GATA3 Transcription Factor
GATA3 protein, human