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.I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.