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ea0037gp.10.10 | Calcium, Vitamin D and Bone | ECE2015

Phenotype–genotype correlation in a series of 131 patients studied for calcium-sensing receptor gene

Vahe Claire , Odou Marie-Francoise , Desailloud Rachel , Leroy Clara , Bauters Catherine , Scherpereel Arnaud , Pattou Francois , Carnaille Bruno , Wemeau Jean-Louis , Vantyghem Marie-Christine

Calcium-sensing receptor gene (CASR) loss-of-function mutations lead to familial hypocalciuric hypercalcaemia (FHH), neonatal severe hyperparathyroidism, and primary hyperparathyroidism. FFH is characterized by mild hypercalcaemia, hypocalciuria, calcium clearance/creatinine clearance (CaCl/CrCl) <0.01, normal or high PTH level. Nevertheless the phenotype may vary (Thakker 2012). The aim of this work was to compare the phenotypes of patients bearing or not a pathogenic <em...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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