Detection of a novel DSPP mutation by NGS in a population isolate in Madagascar

Detection of a novel DSPP mutation by NGS in a population isolate in Madagascar

A large family from a small village in Madagascar, Antanetilava, is known to present with coloured teeth. Through previous collaboration and 4 successive visits in 1994, 2004, 2005 and 2012, we provided dental care to the inhabitants and diagnosed dentinogenesis imperfecta. Recently, using whole exo...

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Main Authors: Agnes eBloch-Zupan, Mathilde eHuckert, Corinne eStoetzel, Julia eMeyer, Véronique eGeoffroy, Rabisoa William eRazafindrakoto, Saholy Nirina Nirina Ralison, Jean-Claude eRandrianaivo, Georgette eRalison, Rija Onintsoa Andriamasinoro, Rija Herindrainy Ramanampamaharana, Solofomanantsoa Eddy Randrianazary, Beatrice eRichard, Philippe eGorry, Marie-Cécile eManière, Simone eRakoto Alson, Hélène eDollfus
Format: Article
Language:English
Published: Frontiers Media S.A. 2016-03-01
Series:Frontiers in Physiology
Subjects:
Dentin
Dentinogenesis Imperfecta
human
mutations
NGS
rare disease
Online Access:http://journal.frontiersin.org/Journal/10.3389/fphys.2016.00070/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fphys.2016.00070/full

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