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Article

Variation in phenotypes from a Bmp-Gata3 genetic pathway is modulated by Shh signaling.

PLoS genetics - 1 May 2021

Swartz Mary E, Lovely C Ben, Eberhart Johann K

Abstract excerpt

We sought to understand how perturbation of signaling pathways and their targets generates variable phenotypes. In humans, GATA3 associates with highly variable defects, such as HDR syndrome, microsomia and choanal atresia. We previously characterized a zebrafish point mutation in gata3 with highly variable craniofacial defects to the posterior palate. This variability could be due to residual Gata3 function,...

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Identifiers

PMID: 34033651
DOI: 10.1371/journal.pgen.1009579
PMCID: PMC8184005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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