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Article

Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.

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

Jadico Suzanne K, Huebner Alexandra, McDonald-McGinn Donna M, Zackai Elaine H, Young Terri L

Abstract excerpt

BACKGROUND/PURPOSE: Despite the similar clinical phenotype of the Saethre-Chotzen and Muenke craniosynostoses, the 2 syndromes are now genotypically distinct. Patients with Saethre-Chotzen and Muenke syndromes carry mutations in the TWIST and fibroblast growth factor receptor (FGFR) 3 genes, respectively. We sought to assess possible ocular phenotypic differences in patients with mutations of either gene...

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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 3

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Source

Identifiers

PMID: 17070479
DOI: 10.1016/j.jaapos.2006.06.008

Genes

FGFR3

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.

Related research

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Research trail→

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Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.PMID 17070479Read ↗

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