A case of nephrocalcinosis in a 7‐month‐old with congenital hypothyroidism: Insights from targeted exome sequencing

• Main Authors: Omar Zgheib (Author), Lina Quteineh (Author), Paloma Parvex (Author), Caterina Marconi (Author), Valerie Schwitzgebel (Author), Massimiliano Bertacchi (Author)
• Format: Book
• Published: Wiley, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Nephrocalcinosis is a complex disease with a multitude of triggering factors. An association with congenital hypothyroidism has been described in the literature, but the mechanisms leading to its development remain unclear. A 7‐month‐old infant presented with muscular hypotonia and signs of...