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

Paulo Marcio Yamaguti,Rosa Vargas-Poussou,Pascal Houiller,Ariane Berdal,Sylvie Babajko,Maristela Estevão Barbosa,Dominique Hotton,Renaud De La Faille,Francisco De Assis Rocha Neves,Ana Carolina Acevedo,Christophe Ditsch,Maria Do Carmo Scher,Claire Bardet,Muriel De La Dure-Molla,Luiz Claudio Castro,Marie-Lucile Figueres,Catherine Chaussain,Jean-Christophe Fricain

doi:10.1136/jmedgenet-2016-103956

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

Paulo Marcio Yamaguti, Rosa Vargas-Poussou + Show 16 more

https://doi.org/10.1136/jmedgenet-2016-103956

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Journal: Journal of Medical Genetics	Publication Date: Aug 16, 2016
Citations: 44

Affiliation: Universidade de Brasília, Hospital Universitário de Brasília, Assistance Publique – Hôpitaux de Paris, Délégation Paris 5, Centre de Recherche des Cordeliers, Sorbonne Paris Cité, Sorbonne Université, Université Paris Cité, Inserm, French National Centre for Scientific Research, Hôpital Rothschild, Centre Hospitalier Universitaire de Bordeaux, Centre Médical de La Teppe, Laboratory Orofacial Pathologies, Imaging and Biotherapies, University of Bordeaux

#Familial Hypomagnesaemia #Different Degrees Of Severity + Show 8 more

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BackgroundAmelogenesis 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...

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