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familial hypoparathyroidism


Definition: 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 [MIM*146200, MIM*241400, and MIM*307700]. 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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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.