Associated Papers
Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Girón-Ortega M et al.
Ophthalmic Genetics, 2024
Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Perdomo-Ramirez A et al.
Gene, 2019
Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.
Khan AO et al.
Ophthalmic Genetics, 2018
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Claverie-Martín F et al.
Plos One, 2013
Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease.
Naeem M et al.
American Journal of Nephrology, 2011
A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets.
Kasapkara CS et al.
Genetic Counseling (geneva, Switzerland), 2011
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