New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).

Rodrigues, Luiza Souza

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). [electronic resource] - Arquivos brasileiros de endocrinologia e metabologia Feb 2011 - 67-71 p. digital

Publication Type: Case Reports; Journal Article

1677-9487

10.1590/s0004-27302011000100009 doi


Female
Humans
Hypercalcemia--blood
Hyperparathyroidism--genetics
Infant
Infant, Newborn
Mutation--genetics
Pedigree
Receptors, Calcium-Sensing--genetics
Recurrence