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Article

22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development.

Human molecular genetics - 15 Jan 2013

Maynard Thomas M, Gopalakrishna Deepak, Meechan Daniel W, Paronett Elizabeth M, Newbern Jason M, LaMantia Anthony-Samuel

Abstract excerpt

We asked whether key morphogenetic signaling pathways interact with 22q11 gene dosage to modulate the severity of cranial or cardiac anomalies in DiGeorge/22q1 deletion syndrome (22q11DS). Sonic hedgehog (Shh) and retinoic acid (RA) signaling is altered in the brain and heart-clinically significant 22q11DS phenotypic sites-in LgDel mouse embryos, an established 22q11DS model. LgDel embryos treated with...

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Identifiers

PMID: 23077214
DOI: 10.1093/hmg/dds429
PMCID: PMC3526161

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Source receipt: pubmed, retrieved 7 Sept 2026.

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