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Article

A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage.

Clinical dysmorphology - 1 Jan 2008

Lai Angeline H M, Tan Yuen-Ming, Law Hai-Yang, Yeow Vincent K L

Abstract excerpt

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Topics

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Share to Acrocephalosyndactylia
Share to FGFR2 gene
Share to Infant, Newborn
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Receptor, Fibroblast Growth Factor, Type 2

Share to Tomography, X-Ray Computed

Source

Identifiers

PMID: 18049087
DOI: 10.1097/MCD.0b013e3282efdaf1

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage.PMID 18049087Read ↗

Sacral appendage in a child with an FGFR2 mutation: a report and review.Semantic proximity Read ↗

A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.Semantic proximity Read ↗

FGFR2 mutations in Pfeiffer syndrome.Semantic proximity Read ↗

FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants.Semantic proximity Read ↗

Sacral appendage associated with a mutation in FGFR2.Semantic proximity Read ↗

Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2.Semantic proximity Read ↗

Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis.Semantic proximity Read ↗

Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.Semantic proximity Read ↗

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.Semantic proximity Read ↗

[A case of Pfeiffer syndrome caused by FGFR2 gene variation].Semantic proximity Read ↗

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.Semantic proximity Read ↗

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.Semantic proximity Read ↗

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