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Article

Dosage-dependent effects of FGFR2W290R mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses.

Anatomical record (Hoboken, N.J. : 2007) - 1 Jul 2025

Richbourg Heather A, Vidal-García Marta, Brakora Katherine A, Devine Jay, Takenaka Risa, Young Nathan M, Gong Siew-Ging, Neves Amanda, Hallgrímsson Benedikt, Marcucio Ralph S

Abstract excerpt

Craniosynostosis is a common yet complex birth defect, characterized by premature fusion of the cranial sutures that can be syndromic or nonsyndromic. With over 180 syndromic associations, reaching genetic diagnoses and understanding variations in underlying cellular mechanisms remains a challenge. Variants of FGFR2 are highly associated with craniosynostosis and warrant further investigation. Using the missense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 2

Source

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Identifiers

PMID: 38409943
DOI: 10.1002/ar.25398
PMCID: PMC11345876

Genes

FGFR2

Provenance

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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