Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 May 2012

Sharma Vikram P, Wall Steven A, Lord Helen, Lester Tracy, Wilkie Andrew O M

Abstract excerpt

The management of a 1-year-old boy with Crouzonoid features is presented with a description of molecular genetic investigations that revealed a previously unreported mutation of the fibroblast growth factor receptor 2 (FGFR2) gene encoding the amino acid substitution p.Cys62Arg within the immunoglobin-like (IgI) domain. The patient presented in atypical fashion with severe sagittal synostosis but only mild...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Craniofacial Dysostosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniosynostoses

Share to FGFR2 gene

Share to Infant

Share to Mutation

Share to Receptor, Fibroblast Growth Factor, Type 2

Share to Tomography, X-Ray Computed

Source

Identifiers

PMID: 22117175
DOI: 10.1597/11-185

Genes

FGFR2

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.PMID 22117175Read ↗

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations.Semantic proximity Read ↗

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.Semantic proximity Read ↗

Current Understanding of Crouzon Syndrome Pathophysiology and New Therapeutic Approaches.Semantic proximity Read ↗

A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia.Semantic proximity Read ↗

[Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes].Semantic proximity Read ↗

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.Semantic proximity Read ↗

Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome.Semantic proximity Read ↗

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.Semantic proximity Read ↗

Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations.Semantic proximity Read ↗

Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.Semantic proximity Read ↗

Craniosynostosis syndromes in the genomic era.Semantic proximity Read ↗

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.