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Article

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

PloS one - 1 Jan 2014

Ogata Tsutomu, Niihori Tetsuya, Tanaka Noriko, Kawai Masahiko, Nagashima Takeshi, Funayama Ryo, Nakayama Keiko, Nakashima Shinichi, Kato Fumiko, Fukami Maki, Aoki Yoko, Matsubara Yoichi

Abstract excerpt

BACKGROUND: Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS)-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in dele...

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Identifiers

PMID: 24637876
DOI: 10.1371/journal.pone.0091598
PMCID: PMC3956758

Genes

TBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24637876-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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