Pathogenic variants in the CLDN19 gene are responsible for Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) with ocular pathology (MIM *248190). Our objective was to delineate the ophthalmological and genetic manifestations of a patient with FHHNC and a pathogenic variant in
No takes yet. Share an insight, caveat, or question.
Girón-Ortega et al. (2024) studied this question.
Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context: