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

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

Abstract Background Causative variants in genes of the EDA/EDAR/NF‐κB pathway, such as EDA and EDARADD, have been widely identified in patients with non‐syndromic tooth agenesis (NSTA). However, few cases of NSTA are due to ectodysplasin‐A receptor (EDAR) variants. In this study, we investigated NST...

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Bibliographic Details
Main Authors: Hongyu Zhang, Xuanting Kong, Jiabao Ren, Shuo Yuan, Chunyan Liu, Yan Hou, Ye Liu, Lingqiang Meng, Guozhong Zhang, Qingqing Du, Wenjing Shen
Format: Article
Language:English
Published: Wiley 2021-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
EDA gene
EDAR gene
missense variant
non‐syndromic tooth agenesis
Online Access:https://doi.org/10.1002/mgg3.1684

Internet

https://doi.org/10.1002/mgg3.1684

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