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Article

Metopic craniosynostosis due to mutations in GLI3: A novel association.

American journal of medical genetics. Part A - 1 Jul 2010

McDonald-McGinn Donna M, Feret Holly, Nah Hyun-Duck, Bartlett Scott P, Whitaker Linton A, Zackai Elaine H

Abstract excerpt

We report on the novel association of trigonocephaly and polysyndactyly in two unrelated patients due to mutations within the last third (exon 14) and first third (exon 6) of the GLI3 gene, respectively. GLI3 acts as a downstream mediator of the Sonic hedgehog signal-transduction pathway which is...

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Source

Identifiers

PMID: 20583172
DOI: 10.1002/ajmg.a.33495

Genes

GLI3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20583172-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

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

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