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.

Genetics of hypoparathyroidism and pseudohypoparathyroidism / M.L. Brandi. - In: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. - ISSN 0391-4097. - ELETTRONICO. - 34:(2011), pp. 27-34.

Genetics of hypoparathyroidism and pseudohypoparathyroidism.

BRANDI, MARIA LUISA
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.
2011
34
27
34
M.L. Brandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/639901
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