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Family Medicine Articles on MDLinx

Williams-Beuren Syndrome Hypercalcemia: Is TRPC3 a Novel Mediator in Calcium Homeostasis Pediatrics, 06/08/2012

Letavernier E et al. – These data suggest that calcium metabolism abnormalities observed in Williams–Beuren syndrome (WBS) may be attributable to TFII–I haploinsufficiency and subsequent TRPC3 overexpression, thereby increasing both digestive and renal calcium absorption. This original observation prompts further investigation of TRPC3 as a novel actor of calcium homeostasis.

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