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Article

Role of TBX1 in human del22q11.2 syndrome.

Lancet (London, England) - 25 Oct 2003

Yagi Hisato, Furutani Yoshiyuki, Hamada Hiromichi, Sasaki Takashi, Asakawa Shuichi, Minoshima Shinsei, Ichida Fukiko, Joo Kunitaka, Kimura Misa, Imamura Shin-ichiro, Kamatani Naoyuki, Momma Kazuo, Takao Atsuyoshi, Nakazawa Makoto, Shimizu Nobuyoshi, Matsuoka Rumiko

Abstract excerpt

BACKGROUND: Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000-5000 livebirths. It is characterised by a 3-Mb deletion on chromosome 22q11.2, cardiac abnormalities, T-cell deficits, cleft palate facial anomalies, and hypocalcaemia. At least 30 genes have been mapped to the deleted region. However, the association of these genes with the cause of this...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DiGeorge Syndrome

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Share to Heart Defects, Congenital

Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 14585638
DOI: 10.1016/s0140-6736(03)14632-6

Genes

TBX1

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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Role of TBX1 in human del22q11.2 syndrome.PMID 14585638Read ↗

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