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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Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
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Original Articles
Acesso em linha: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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