Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome.

E DinoiL PierottiL MazoniF CitroS Della ValentinaC SardellaS BorsariA MichelucciM A CaligoC MarcocciFilomena Cetani

Published in: Journal of endocrinological investigation (2023)

HDR syndrome is a rare cause of hypoparathyroidism and must be excluded in all patients with apparently idiopathic hypoparathyroidism. A correct diagnosis is of great importance for early detection of other HDR-related features and genetic counseling.

Keyphrases

case report
smoking cessation
gene expression
copy number
hiv testing
hiv infected