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Article

In vivo response to high-resolution variation of Tbx1 mRNA dosage.

Human molecular genetics - 1 Jan 2008

Zhang Zhen, Baldini Antonio

Abstract excerpt

Mouse modeling of haploinsufficiency syndromes and, in general, of syndromes caused by gene dosage imbalance, is often unsatisfactory because loss (or gain) of one copy of the gene of interest is insufficient to recapitulate the disease phenotype. In this study, we use Tbx1 mutants, which model one of the most common haploinsufficiency disorders, the 22q11.2DS/DiGeorge/Velocardiofacial syndrome, to test the...

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Identifiers

PMID: 17916582
DOI: 10.1093/hmg/ddm291

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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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