A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome-Reference-Cited by-同舟云学术

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A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Published:2024-03 Issue: Volume:38 Page:101063
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Huang Bo,Li Shiwei,Chai Yun,Fan Yu,Li Xin,Liu Yue,Fu Yunhong,Song Xixi,Cui Jingqiu

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Reference25 articles.

1. The syndrome of hypoparathyroidism, deafness, and renal anomalies;Upadhyay;Endocr. Pract.,2013

2. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13);Hasegawa;Am. J. Med. Genet.,1997

3. Novel dominant-negative mutant of GATA3 in HDR syndrome;Ohta;J. Mol. Med. (Berl),2011

4. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor;Ali;Hum. Mol. Genet.,2007

5. Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding;Chenouard;Eur. J. Pediatr.,2013

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