Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

In this study, we report a unique dominantly inherited disorganized supernumerary cusp and single root phenotype presented by 11 affected individuals belonging to 5 north-eastern Thai families. Using whole exome sequencing (WES) we identified a common single missense mutation that segregates with th...

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Bibliographic Details
Main Authors: Virginie Laugel-Haushalter, Supawich Morkmued, Corinne Stoetzel, Véronique Geoffroy, Jean Muller, Anne Boland, Jean-François Deleuze, Kirsley Chennen, Waranuch Pitiphat, Hélène Dollfus, Karen Niederreither, Agnès Bloch-Zupan, Patimaporn Pungchanchaikul
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-09-01
Series:Frontiers in Physiology
Subjects:
rare disease
dental anomalies
patterning
mutations
NGS
human
Online Access:https://www.frontiersin.org/article/10.3389/fphys.2018.01329/full

Internet

https://www.frontiersin.org/article/10.3389/fphys.2018.01329/full

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