Omar Zgheib’s Post

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Fellow in Medical Genetics - Hôpitaux Universitaires de Genève

Nephrocalcinosis, or calcium deposition in the kidney, can be a complication of congenital hypothyroidism and is fortunately very rare thanks to newborn screening. I’m happy to share my publication in Pediatric Discovery of a case of nephrocalcinosis and congenital hypothyroidism, with insight into the mitochondrial mechanism behind this potentially overlooked causal relationship. Many thanks to Lina Quteineh, Paloma Parvex, Caterina Marconi, Prof. Valérie Schwitzgebel, and Massimiliano Bertacchi for this collaboration.

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

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

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