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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Detalles Bibliográficos
Autores principales: Zhang, Hongyu, Kong, Xuanting, Ren, Jiabao, Yuan, Shuo, Liu, Chunyan, Hou, Yan, Liu, Ye, Meng, Lingqiang, Zhang, Guozhong, Du, Qingqing, Shen, Wenjing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222839/
https://www.ncbi.nlm.nih.gov/pubmed/33943035
http://dx.doi.org/10.1002/mgg3.1684

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