日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Rare variants in NRSN2 cause non-syndromic orofacial cleft through dysregulation of TGF-β signaling

NRSN2基因的罕见变异通过TGF-β信号传导失调导致非综合征性唇腭裂。

Zheng, Xiaowen; Liang, Xuqin; Wu, Xiantao; He, Qing; Yin, Chunyan; Jiao, Yuhua; Wang, Yanhao; Hou, Yuxia; Ding, Yi; Zhao, Huaxiang

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

外显子组测序揭示了非综合征性口面裂的遗传结构,并将BOC鉴定为一个新的致病基因

He Qing, Yu Min, Jiao Yuhua, Xu Yizhu, Liang Xuqin, Huang Wenbin, Xu Linping, Hou Yuxia, Ren Zhanping, Lyu Beile, Qian Zhenwei, Liu Pengpeng, Zhou Jing, Huang Huimei, Yin Chunyan, Zhao Huaxiang, Ding Yi