Genetics of hypoparathyroidism and pseudohypoparathyroidism.
2011
Abstract Congenital hypoparathyroidism encompasses a series of disorders chracterized by the common biochimical feature of symptomatic hypocalcemia with concomitant hypophosphoremia. Clinical features differ among the various parathyroid-related hypocalcemic syndromes, as understandable on the basis of disorder-specific genetics. The present article reviews the various disorders related to both hypoparathyroid and pseudohypoparathyroid conditions, with a detailed report of the recent discoveries in term of the genetics of these syndromes.
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