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10.6065/apem.2015.20.1.59

http://scihub22266oqcxt.onion/10.6065/apem.2015.20.1.59
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C4397275!4397275!25883929
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suck abstract from ncbi


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pmid25883929      Ann+Pediatr+Endocrinol+Metab 2015 ; 20 (1): 59-63
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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.
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