familial hypoparathyroidism

fa·mil·i·al hy·po·par·a·thy·roid·ism

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.

fa·mil·i·al hy·po·par·a·thy·roid·ism

(fă-milē-ăl hīpō-pară-thīroyd-izm) Inherited isolated hypoparathyroidism characterized by hypocalcemia, hyperphosphatemia, cataracts, intracerebral calcifications, and tetany.

单词	familial hypoparathyroidism
释义	familial hypoparathyroidism fa·mil·i·al hy·po·par·a·thy·roid·ism 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 [MIM146200, MIM241400, and MIM307700]. 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. fa·mil·i·al hy·po·par·a·thy·roid·ism (fă-milē-ăl hīpō-pară-thīroyd-izm) Inherited isolated hypoparathyroidism characterized by hypocalcemia, hyperphosphatemia, cataracts, intracerebral calcifications, and tetany.
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