Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia

Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder, associated with inactivating mutations of the calcium-sensing receptor (CaSR). To evaluate the functional significance of a CaSR mutation, identified in a young infant who presented with hypercalcemia and hypocalciuria. Th...

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Bibliografske podrobnosti
izdano v:J Clin Res Pediatr Endocrinol
Main Authors: Papadopoulou, Anna, Gole, Evangelia, Melachroinou, Katerina, Meristoudis, Christos, Siahanidou, Tania, Papadimitriou, Anastasios
Format: Artigo
Jezik:Inglês
Izdano: Galenos Publishing 2016
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5096500/
https://ncbi.nlm.nih.gov/pubmed/27087013
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.2800
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