Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.

Paulo Marcio YamagutiFrancisco de Assis Rocha NevesDominique HottonClaire BardetMuriel de La Dure-MollaLuiz Claudio Gonçalves De Castro Maria do Carmo Scher Maristela Estevão BarbosaChristophe DitschJean-Christophe Fricain Renaud de La Faille Marie-Lucile FigueresRosa Vargas-PoussouPascal HouillierCatherine ChaussainSylvie BabajkoAriane BerdalAna Carolina Acevedo

Published in: Journal of medical genetics (2016)

For the first time, it was demonstrated that AI is associated with FHHNC in patients carrying CLDN19 mutations. The data suggest claudin-19 as an additional determinant in enamel formation. Indeed, the coexistence of hypoplastic and hypomineralised AI in the patients was consistent with claudin-19 expression in both secretory and maturation stages. Additional indirect systemic effects cannot be excluded.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
artificial intelligence
poor prognosis
machine learning
early onset
binding protein
deep learning