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Article

Novel nonsense mutation in MSX1 causes tooth agenesis with cleft lip in a Chinese family.

European journal of oral sciences - 1 Aug 2012

Liang Jia, Zhu Lingling, Meng Liuyan, Chen Dong, Bian Zhuan

Abstract excerpt

Tooth agenesis is one of the most common developmental disorders in humans. Previous studies have attributed non-syndromic tooth agenesis to mutations in several genes, including MSX1, PAX9, EDA, and AXIN2. In this study, we investigated a Chinese family with tooth agenesis combined with cleft lip. Genomic DNA was isolated from blood samples of all available family members. Candidate genes MSX1 and PAX9 were...

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Source

Identifiers

PMID: 22813217
DOI: 10.1111/j.1600-0722.2012.00965.x

Genes

MSX1
PAX9
AXIN2
EDA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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