Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel

Article ID	Journal	Published Year	Pages	File Type
6050845	Archives of Oral Biology	2015	12 Pages	PDF

Abstract

These results suggest that FAM83H missense mutation reported in one of the families analyzed in this study might cause a phenotype of hypocalcified enamel more attenuated with retention of amelogenin.

Keywords

Amelogenesis Missense mutation Mild phenotype

Related Topics

Health Sciences Medicine and Dentistry Dentistry, Oral Surgery and Medicine

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Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel

Authors

Blanca Urzúa, Carolina MartÃnez, Ana Ortega-Pinto, Daniela Adorno, Irene Morales-Bozo, Gonzalo Riadi, Lilian Jara, Anita Plaza, Claudia Lefimil, Carla Lozano, Monserrat Reyes,