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Article

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

American journal of medical genetics - 23 Jan 1998

Schaefer F, Anderson C, Can B, Say B

Abstract excerpt

We have studied an infant with cloverleaf skull, proptosis, radioulnar synostosis and broad thumbs and great toes diagnosed as Pfeiffer syndrome type 2. However, there were many overlapping findings with Antley-Bixler syndrome. The patient was found to have a G to T mutation in codon 290 exon 7 of the FGFR2 gene leading to a substitution of a cys for the normal trp at this locus. This is the third mutation...

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Source

Identifiers

PMID: 9475591
DOI: 10.1002/(sici)1096-8628(19980123)75:3<252::aid-ajmg4>3.0.co;2-s

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.PMID 9475591Read ↗

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

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.Semantic proximity Read ↗

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

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.Semantic proximity Read ↗

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.Semantic proximity Read ↗

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

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

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

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.Semantic proximity Read ↗

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Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).Semantic proximity Read ↗

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