Whole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia

por Yang, Liyuan, Lu, Genqi, Shen, Wenjing, Chen, Wenjing, Lu, Haiyan, Zhang, Guozhong, Yuan, Shuo, Zheng, Shushen, Ren, Jiabao
Publicado 2021

A novel EDAR missense mutation identified by whole‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family

por Zhang, Hongyu, Kong, Xuanting, Ren, Jiabao, Yuan, Shuo, Liu, Chunyan, Hou, Yan, Liu, Ye, Meng, Lingqiang, Zhang, Guozhong, Du, Qingqing, Shen, Wenjing
Publicado 2021

Genotype-phenotype pattern analysis of pathogenic PAX9 variants in Chinese Han families with non-syndromic oligodontia

por Ren, Jiabao, Gan, Sifang, Zheng, Shushen, Li, Meikang, An, Yilin, Yuan, Shuo, Gu, Xiuge, Zhang, Li, Hou, Yan, Du, Qingqing, Zhang, Guozhong, Shen, Wenjing
Publicado 2023

A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia

por Wang, Xu, Zhang, Zhiyu, Yuan, Shuo, Ren, Jiabao, Qu, Hong, Zhang, Guozhong, Chen, Wenjing, Zheng, Shushen, Meng, Lingqiang, Bai, Jiuping, Du, Qingqing, Yang, Dongru, Shen, Wenjing
Publicado 2020