Ontology highlight
ABSTRACT:
SUBMITTER: Garcia-Castano A
PROVIDER: S-EPMC6280130 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
García-Castaño Alejandro A Madariaga Leire L Azriel Sharona S Pérez de Nanclares Gustavo G Martínez de LaPiscina Idoia I Martínez Rosa R Urrutia Inés I Aguayo Aníbal A Gaztambide Sonia S Castaño Luis L
Endocrinology, diabetes & metabolism case reports 20181205
Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion and inappropriately normal or mildly elevated parathyroid hormone (PTH) concentrations. We performed a clinical and genetic characterization of one patient suspected of familial hypocalciuric hypercalcemia type I. Patient presented persistent hypercal ...[more]