Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response

GATA3 haplo-insufficiency causes human HDR syndrome

Hilde Van Esch, Peter Groenen, M. Andrew Nesbit et al. · Nature · 2000 · 654 citations

Life Sciences, Genetics, Molecular Genetics +4

Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis

Pier Paolo Pandolfi, Matthew E. Roth, Alar Karis et al. · Nature Genetics · 1995 · 633 citations

Life Sciences, Genetics, Molecular Genetics +11

Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome

M. Andrew Nesbit, Michael R. Bowl, Brian Harding et al. · Journal of Biological Chemistry · 2004 · 169 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

Rudolf W. Bilous, G. V. L. N. Murty, David B. Parkinson et al. · New England Journal of Medicine · 1992 · 169 citations · Full text

Medicine, Endocrinology, Nephrology +17

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Asif Ali, P. T. Christie, I. V. Grigorieva et al. · Human Molecular Genetics · 2006 · 152 citations

Life Sciences, Genetics, Molecular Genetics +13