Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:1.3.1.51 (
HDR
)
605
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis. 2576 99
