Ontology highlight
ABSTRACT:
SUBMITTER: Hasani-Ranjbar S
PROVIDER: S-EPMC6280320 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Hasani-Ranjbar Shirin S Ejtahed Hanieh-Sadat HS Amoli Mahsa M. MM Bitarafan Fatemeh F Qorbani Mostafa M Soltani Akbar A Yarjoo Bahareh B
Journal of clinical research in pediatric endocrinology 20180529 4
<h4>Objective</h4>To describe clinical findings, biochemical profile and genetic analysis in an Iranian kindred with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).<h4>Methods</h4>Clinical examination and biochemical profile results and gene analysis of 12 members of a family of a patient previously diagnosed with HHRH due to <i>SLC34A3</i> mutation. Ten healthy controls were also evaluated.<h4>Results</h4>Of the twelve family members three were homozygote and seven heterozygote ...[more]