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

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...

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Sparad:
Bibliografiska uppgifter
I publikationen:Clin Case Rep
Huvudupphovsmän: Hiramatsu, Rikako, Ubara, Yoshifumi, Tajima, Toshihiro, Usui, Takeshi, Namba, Kazutaka, Takeuchi, Yasuhiro, Sawa, Naoki, Hasegawa, Eiko, Takaichi, Kenmei
Materialtyp: Artigo
Språk:Inglês
Publicerad: BlackWell Publishing Ltd 2015
Ämnen:
Case Reports
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4352355/
https://ncbi.nlm.nih.gov/pubmed/25767699
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.125
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