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Familial hypoparathyroidism

Inherited isolated hypoparathyroidism characterized by hypocalcemia, hyperphosphatemia, cataracts, intracerebral calcifications, and tetany; all three mendelian forms (sex-linked, autosomal dominant, and recessive) of inheritance are known. The autosomal dominant form is caused by mutation in either the parathyroid hormone gene (PTH) on chromosome 11p or the calcium sensing receptor gene (CASR) on 3q.

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