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Article

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

Molecular genetics & genomic medicine - 1 Jun 2021

Zhang Hongyu, Kong Xuanting, Ren Jiabao, Yuan Shuo, Liu Chunyan, Hou Yan, Liu Ye, Meng Lingqiang, Zhang Guozhong, Du Qingqing, Shen Wenjing

Abstract excerpt

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-associated variants in Chinese families. METHODS: Peripheral blood samples were collected from the family members of 24...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33943035
DOI: 10.1002/mgg3.1684
PMCID: PMC8222839

Genes

EDAR
EDA
EDARADD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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