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

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

European journal of pediatrics - 1 Sept 2009

Piccione Maria, Antona Vincenzo, Niceta Marcello, Fabiano Carmelo, Martines Manuela, Bianchi Alberto, Corsello Giovanni

Abstract excerpt

When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with...

Topics

Acrocephalosyndactylia
Craniofacial Dysostosis
Exons
Female
Humans
Infant
Male
Phenotype
Point Mutation
Receptor, Fibroblast Growth Factor, Type 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 19066959
DOI: 10.1007/s00431-008-0884-x

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.PMID 19066959Read ↗

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.Semantic proximity Read ↗

Description of a new mutation and characterization ofFGFR1, FGFR2, andFGFR3 mutations among Brazilian patients with syndromic craniosynostosesSemantic proximity Read ↗

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 ↗

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 ↗

Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.Semantic proximity Read ↗

[From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].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 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.Semantic proximity Read ↗

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.Semantic proximity Read ↗

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

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.Semantic proximity Read ↗

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