Publications by authors named "Valentin Lafond-Rive"
Article Synopsis
- HDR syndrome is a rare genetic disorder characterized by hypoparathyroidism, hearing loss, and kidney abnormalities, caused by specific variants in the GATA3 gene.
- The study reviewed 28 patients and the existing literature, revealing that some conditions typically seen as rare, like genital malformations, are more common than previously thought.
- The research identified patterns in GATA3 variants and highlighted the importance of early hearing assessments and continuous monitoring of parathyroid function and urinary issues to prevent complications in affected individuals.
