GATA3

Publications

Ali A et al. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: Insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet. 2007;16(3),265–75. PMID: 17210674.

Barakat A et al. Familial nephrosis, nerve deafness, and hypoparathyroidism. J Pediatr. 1977; 91(1): 61–4. PMID: 874665.  

Barakat A et al. Barakat syndrome revisited. Am J Med Genet. 2018; 176 (6): 1341-8.  PMID: 29663634.  

Belge H et al. Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome. Nephrol Dial Transplant. 2017;32:830–7.  PMID: 27387476.

Bernandini L et al. HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome associated to GATA3 gene duplication. Clin Genet. 2009;76(1):117- 9. PMID: 19659764.

Bilous R et al. Brief report: Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. NEJM. 1992;327(15):1069–74. PMID: 1522843.

Chen L et al. Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome. J Int Med Res. 2015;43(5):718–24. PMID: 26268891.

Chiu W et al. Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. J Clin Endocrinol Metab. 2006; 91(11):4587–92. PMID: 16912130.

Fujimoto S et al. Recurrent cerebral infarctions and del(10) (p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. Am J Med Genet. 1999; 86(5):427–9. PMID: 10508983.

Fukami M et al. GATA3 abnormalities in six patients with HDR syndrome. GATA3abnormalities in six patients with HDR syndrome. Endocr J. 2011;58(2):117–21. PMID: 21242646.

Hasegawa T et al. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del (10) (p13). Am J Med Genet. 1997;73(4):416–8. PMID: 9415468.

Kim S et al. Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region. Clin Case Rep. 2017;5(8):1369–75. PMID: 28781861.

Muroya K et al. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet. 2001;38(6):374–80. PMID: 11389161.

Nesbit M et al. Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Biol Chem. 2004;279 (21):22624–34. PMID: 14985365.

Online Mendelian Inheritance in Man, OMIMTM (OMIM 146255). Bethesda, MD: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine. Retrieved from http://www.ncbi.nlm.nih.gov/omim/. Updated 10.26.2020.

Upadhyay J et al. The syndrome of hypo-parathyroidism, deafness and renal anomalies. Endocr Pract. 2013;19(6):1035–42. PMID: 23757620.

Van Esch H et al. Human genome and diseases: Review. Transcription factor GATA3 and the human HDR syndrome. Cell Mol Life Sci. 2001;58(9):1296–300. PMID: 11577985.