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pro vyhledávání: '"Maria do Carmo Scher"'
Autor:
Ana Carolina Acevedo, Ariane Berdal, Pascal Houiller, Muriel De La Dure-Molla, Christophe Ditsch, Luiz Claudio Castro, Paulo Marcio Yamaguti, Marie-Lucile Figueres, D. Hotton, Rosa Vargas-Poussou, Maria do Carmo Scher, Renaud de la Faille, Catherine Chaussain, Maristela Estevão Barbosa, Jean-Christophe Fricain, Claire Bardet, Francisco de Assis Rocha Neves, Sylvie Babajko
Publikováno v:
Journal of medical genetics. 54(1)
Background Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutati