Background Tooth agenesis is a common developmental dental anomaly. The aim of the
study was to identify the causal genetic mutation in a four-generation Chinese family …

Oligodontia, which is the congenital absence of six or more permanent teeth, excluding the
third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic …

Abstract Background MSX1 (OMIM# 142983) is crucial to normal dental development, and
variants in MSX1 are associated with dental anomalies. The objective of this study was to …

Congenital tooth agenesis is a common anomaly in humans. We investigated the etiology of
human tooth agenesis by exome analysis in Japanese patients, and found a previously …

OBJECTIVES: Oligodontia is defined as the congenital absence of 6 or more permanent
teeth excluding the third molar. The occurrence of non-syndromic still remains poorly …

The goal of this study was to identify MSX1 gene variants in multiple Chinese families with
nonsyndromic oligodontia and analyse the functional influence of these variants. Whole …

Methods Blood samples were obtained from seven affected and seven unaffected
individuals in the pedigree. All exons and flanking intronic boundaries of the MSX1 gene …

Mutations of MSX1 have been associated with nonsyndromic hypodontia. To seek the
causal gene mutation sites in a family with nonsyndromic oligodontia, whole‐exome …

Since MSX1 and PAX9 are linked to the pathogenesis of nonsyndromic tooth agenesis, we
performed detailed mutational analysis of these two genes sampled from Japanese patients …

Tooth agenesis is one of the most common craniofacial disorders in humans. More than 350
genes have been associated with teeth development. In this study, we enrolled 60 child …