GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s12519-014-0505-x.pdf
Reference19 articles.
1. Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, et al. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet 1997;73:416–418.
2. Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000;406:419–422.
3. Bilous RW, Murty G, Parkinson DB, Thakker RV, Coulthard MG, Burn J, et al. Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N Engl J Med 1992;327:1069–1074.
4. Sun Y, Xia W, Xing X, Li M, Wang O, Jiang Y, et al. Germinal mosaicism of GATA3 in a family with HDR syndrome. Am J Med Genet A 2009;149A:776–778.
5. Nakamura A, Fujiwara F, Hasegawa Y, Ishizu K, Mabe A, Nakagawa H, et al. Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome. Endocr J 2011;58:123–130.
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