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Article

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation

21 Mar 2007

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 17377518
DOI: 10.1038/sj.ejhg.5201819

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardationPMID 17377518Read ↗

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The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.Semantic proximity Read ↗

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Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical FeaturesSemantic proximity Read ↗

Dissecting contiguous gene defects: TBX1.Semantic proximity Read ↗

Role of TBX1 in human del22q11.2 syndrome.Semantic proximity Read ↗

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.Semantic proximity Read ↗

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.Semantic proximity Read ↗

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Semantic proximity Read ↗

Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.Semantic proximity Read ↗

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndromeSemantic proximity Read ↗

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