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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BlackWell Publishing Ltd
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352355/ https://www.ncbi.nlm.nih.gov/pubmed/25767699 http://dx.doi.org/10.1002/ccr3.125 |