Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the < b > < i > SLC34A1 < /i > < /b > Gene

Conclusion: Herein, we present a case of infantile hypercalcemia 2 with a very different phenotype from that of previously described patients. Our findings provide further evidence for the wide range of phenotypic heterogeneity associated with NaPi-IIa impairment.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research