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Article

[Whole genome sequencing and analysis of familial nonsyndromic congenital tooth agenesis].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology - 1 Apr 2026

Zheng Yuemei, Wang Dan, Jiang Tongyang, Yang Danqu, Lu Hong

Abstract excerpt

Congenital tooth agenesis impairs masticatory function and aesthetics and adversely affects craniofacial development. Although largely considered genetic in origin, its exact etiology remains unclear. This study reports three familial cases of nonsyndromic congenital tooth agenesis (NSTA). Whole genome sequencing (WGS) revealed five pathogenic variants: filamins-B (FLNB) (c.5186C>A, p.Ser1729Ter), methylcrotonyl...

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Source

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Identifiers

PMID: 41919540
DOI: 10.7518/hxkq.2026.2025131
PMCID: PMC13047859

Genes

LAMA2
CTSC
FLNB
MCCC2
MORC4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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