Condition: Primary hypomagnesemia (disorder)


rs104893721 in CLDN16 gene and Primary hypomagnesemia (disorder) PMID 10878661 2000 Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.

PMID 10390358 1999 Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.

PMID 11518780 2001 Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

PMID 25477417 2015 Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.

PMID 20607983 2010 Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: the first four patients in Serbia.

PMID 16234325 2005 Paracellin-1 and the modulation of ion selectivity of tight junctions.

PMID 15856319 2005 Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study.