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Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis.

ABSTRACT: We describe a hemodialysis patient with hypoparathyroidism due to HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome caused by GATA3 mutation. She presents tumoral calcinosis which is a rare complication of end-stage renal failure. A novel mutation of GATA3 is identified in this patient.

SUBMITTER: Hiramatsu R 

PROVIDER: S-EPMC4352355 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature

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Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis.

Hiramatsu Rikako R   Ubara Yoshifumi Y   Tajima Toshihiro T   Usui Takeshi T   Namba Kazutaka K   Takeuchi Yasuhiro Y   Sawa Naoki N   Hasegawa Eiko E   Takaichi Kenmei K  

Clinical case reports 20150122 2

We describe a hemodialysis patient with hypoparathyroidism due to HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome caused by GATA3 mutation. She presents tumoral calcinosis which is a rare complication of end-stage renal failure. A novel mutation of GATA3 is identified in this patient. ...[more]

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