Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism that is characterized by gain-of-function mutations in the <i>CASR</i> gene, which provides instructions for producing the protein called calcium-sensing receptor (CaSR). Hypocalcemia in the neonatal perio...
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MDPI AG,
2023-06-01T00:00:00Z.
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