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

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 NSTA‐associ...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Zhang, Hongyu, Kong, Xuanting, Ren, Jiabao, Yuan, Shuo, Liu, Chunyan, Hou, Yan, Liu, Ye, Meng, Lingqiang, Zhang, Guozhong, Du, Qingqing, Shen, Wenjing
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2021
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8222839/
https://ncbi.nlm.nih.gov/pubmed/33943035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1684
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