ea0081ep177 | Calcium and Bone | ECE2022
Dinoi Elisa
, Pierotti Laura
, Mazoni Laura
, Borsari Simona
, Apicella Matteo
, Baldinotti Fulvia
, Caligo Maria Adelaide
, Marcocci Claudio
, Cetani Filomena
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by the triad of hypoparathyroidism (H), deafness (D) and renal abnormalities (R). Its genetic cause is known to be the haploinsufficiency of the zinc finger transcription factor GATA3. This disorder exhibits a great clinical variability and an age-dependent penetrance of each feature. The most frequent manifestation is sen...