Genetic Considerations

Mutations in the calcium-sensing receptor (CASR) are associated with a familial syndrome of hypocalcemia with hypercalciuria that occurs independently from hypoparathyroidism and may include severe neonatal seizures. Persistent low blood calcium levels are also seen in DiGeorge syndrome, which results from a deletion of several genes on chromosome 22 (22q deletion). Other features of 22q deletion include cleft palate, cardiac defects, characteristic facial features, underdevelopment of the thymus.

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