Associated Papers
Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Girón-Ortega M et al.
Ophthalmic Genetics, 2024
Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.
Khan AO et al.
Ophthalmic Genetics, 2018
First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.
Yuan T et al.
Calcified Tissue International, 2015
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Claverie-Martín F et al.
Plos One, 2013
Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.
Faguer S et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
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
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