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Article

Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.

Journal of dental research - 1 Apr 2011

Kantaputra P N, Paramee M, Kaewkhampa A, Hoshino A, Lees M, McEntagart M, Masrour N, Moore G E, Pauws E, Stanier P

Abstract excerpt

X-linked cleft palate and ankyloglossia (CPX) are caused by mutations in the TBX22 transcription factor. To investigate whether patients with ankyloglossia alone or in the presence of other craniofacial features including hypodontia or CLP might be caused by TBX22 mutations, we analyzed 45 Thai patients with isolated ankyloglossia, 2 unusual CPA families, and 282 non-syndromic Thai and UK patients with CLP. Five...

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Source

Identifiers

PMID: 21248356
DOI: 10.1177/0022034510391052

Genes

TBX22

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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Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.PMID 21248356Read ↗

TBX22 mutations are a frequent cause of non‐syndromic cleft palate in the Thai populationSemantic proximity Read ↗

TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly.Semantic proximity Read ↗

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.Semantic proximity Read ↗

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X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.Semantic proximity Read ↗

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Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women.Semantic proximity Read ↗

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.Semantic proximity Read ↗

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.Semantic proximity Read ↗

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.Semantic proximity Read ↗

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