Ontology highlight
ABSTRACT:
SUBMITTER: Yu P
PROVIDER: S-EPMC5005437 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Yu Ping P Yang Wenli W Han Dong D Wang Xi X Guo Sen S Li Jinchen J Li Fang F Zhang Xiaoxia X Wong Sing-Wai SW Bai Baojing B Liu Yao Y Du Jie J Sun Zhong Sheng ZS Sun Zhong Sheng ZS Shi Songtao S Feng Hailan H Cai Tao T
American journal of human genetics 20160616 1
Tooth agenesis is one of the most common developmental anomalies in humans. Oligodontia, a severe form of tooth agenesis, is genetically and phenotypically a heterogeneous condition. Although significant efforts have been made, the genetic etiology of dental agenesis remains largely unknown. In the present study, we performed whole-exome sequencing to identify the causative mutations in Chinese families in whom oligodontia segregates with dominant inheritance. We detected a heterozygous missense ...[more]