Identification and functional characterization of a CaSR mutation in an infant with Familial Hypocalciuric Hypercalcemia.

CONCLUSION: We have shown that the c.772_773delGTinsA mutation causes a significant alteration of CaSR function, leading to features of FHH in an affected young infant, since the first months of life. PMID: 27087013 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research