A novel variant in the CLDN19 gene has been identified as a cause of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) with ocular involvement. This discovery enhances understanding of the genetic basis of this rare condition.
familial hypomagnesemia with hypercalciuria and nephrocalcinosis fhhnc with ocular involvement due to a novel cldn19 variant
Original title: “Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) with ocular involvement due to a novel CLDN19 variant.”