
Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy
Author(s) -
Xiao Sun,
Liang Huang,
Jin Fu Wu,
Yuhong Tao,
Yang Fan
Publication year - 2018
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000013128
Subject(s) - cinacalcet , medicine , calcium sensing receptor , hyperparathyroidism , parathyroid hormone , endocrinology , nephrocalcinosis , hypoparathyroidism , calcitonin , calcium , pediatrics , secondary hyperparathyroidism , kidney