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Amelogenesis imperfecta (AI) is a group of genetic disorders characterized by defects in tooth enamel. AI was recently reported in patients with familial hypercalciuria and hypomagnesemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control paracellular channels of calcium and magnesium. FHHNC may be associated with mutations in these two genes.
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