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Article

Phenotypic variability of atypical 22q11.2 deletions not including TBX1.

American journal of medical genetics. Part A - 1 Oct 2012

Verhagen Judith M A, Diderich Karin E M, Oudesluijs Grétel, Mancini Grazia M S, Eggink Alex J, Verkleij-Hagoort Anna C, Groenenberg Irene A L, Willems Patrick J, du Plessis Frederik A, de Man Stella A, Srebniak Malgorzata I, van Opstal Diane, Hulsman Lorette O M, van Zutven Laura J C M, Wessels Marja W

Abstract excerpt

Interstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. The TBX1 gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial...

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Source

Identifiers

PMID: 22893440
DOI: 10.1002/ajmg.a.35517

Genes

TBX1
CRKL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22893440-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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