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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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Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018-09-01
coleção:Frontiers in Physiology
Assuntos:
rare disease
dental anomalies
patterning
mutations
NGS
human
Acesso em linha:https://www.frontiersin.org/article/10.3389/fphys.2018.01329/full
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