Nizar R

No ORCID on file · 1 paper in corpus · active 2025
2025
Endocrinology, diabetes & metabolism case reports ·doi:10.1530/edm-24-0140

SummaryHDR syndrome is a rare, heterogeneous genetic disorder characterised by a triad of hypoparathyroidism, sensorineural deafness, and renal disease. The defect in most patients is caused by deletions in chromosome 10p14 or mutations in …