Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations | Zendy

Stanislas Faguer | Zendy; Dominique Chauveau | Zendy; Pascal Cintas | Zendy; Ivan Tack | Zendy; Olivier Cointault | Zendy; Lionel Rostaing | Zendy; Rosa VargasPoussou | Zendy; David Ribes | Zendy

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Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

Author(s) -

Stanislas Faguer,

Dominique Chauveau,

Pascal Cintas,

Ivan Tack,

Olivier Cointault,

Lionel Rostaing,

Rosa VargasPoussou,

David Ribes

Publication year - 2010

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.02870310

Subject(s) - medicine , nephrocalcinosis , hypercalciuria , hypomagnesemia , missense mutation , hypokalemia , gastroenterology , abdominal pain , hypocalciuria , weakness , nephrology , urinary system , endocrinology , pediatrics , kidney , surgery , mutation , biochemistry , chemistry , materials science , gene , magnesium , metallurgy

The objective of this study was to describe the renal and extrarenal findings in patients with recessively inherited familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) associated with CLDN19 mutations.

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