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

[Apert syndrome or acrocephalosyndactilia type I].

Revue medicale de Liege - 1 Oct 2021

Partoune S, Masereel M C

Abstract excerpt

Apert syndrome, or acrocephalosyndactilia type I, is a rare genetic disorder caused by mutations in the FGFR2 gene and characterized by craniosynostosis, craniofacial dysmorphia and symmetrical syndactyly of the hands and feet. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. This syndrome presents significant clinical variability and its early diagnosis is essential. We...

Read the complete abstract on PubMed

Topics

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

Share to Acrocephalosyndactylia
Share to Craniosynostoses
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pregnancy

Share to Receptor, Fibroblast Growth Factor, Type 2

Share to Syndactyly

Source

Identifiers

PMID: 34632738

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Apert syndrome or acrocephalosyndactilia type I].PMID 34632738Read ↗

[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain].Semantic proximity Read ↗

Prenatal diagnosis and management of Apert syndrome in a low-middle income country: Case reportSemantic proximity Read ↗

Prenatal Diagnosis of Apert Syndrome due to A De novo FGFR2 Mutation at the Second Trimester: a case reportSemantic proximity Read ↗

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.Semantic proximity Read ↗

Apert syndrome with omphalocele: a case report.Semantic proximity Read ↗

[Prenatal diagnosis of Apert syndrome caused by de novo mutation in FGFR2 gene].Semantic proximity Read ↗

Apert syndrome.Semantic proximity Read ↗

Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.Semantic proximity Read ↗

Acrocephalosyndactyly--type I (Apert's syndrome).Semantic proximity Read ↗

Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome.Semantic proximity Read ↗

Understanding the molecular basis of Apert syndrome.Semantic proximity Read ↗

Identification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report.Semantic proximity Read ↗

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