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Article

Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Dec 2006

Jadico Suzanne K, Young David A, Huebner Alexandra, Edmond Jane C, Pollock Avrum N, McDonald-McGinn Donna M, Li Yi-Ju, Zackai Elaine H, Young Terri L

Abstract excerpt

BACKGROUND/PURPOSE: Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene. This study's goal was to determine ophthalmic phenotype/genotype correlation...

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Source

Identifiers

PMID: 17189145
DOI: 10.1016/j.jaapos.2006.07.012

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17189145-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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