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.
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