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Deprecated: Implicit conversion from float 215.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Ann+Pediatr+Endocrinol+Metab 2015 ; 20 (1): 59-63 Nephropedia Template TP
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Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation #MMPMID25883929
Shim YS; Choi W; Hwang IT; Yang S
Ann Pediatr Endocrinol Metab 2015[Mar]; 20 (1): 59-63 PMID25883929show ga
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.