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

Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations.

Plastic and reconstructive surgery - 1 May 2012

Ko Jung Min, Jeong Seon-Yong, Yang Jung-Ah, Park Dong Ha, Yoon Soo Han

Abstract excerpt

BACKGROUND: Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. In particular, coronal synostosis evidences a higher tendency to be genetically caused, and TWIST1 and FGFR3 have been identified as major causative genes. The authors analyzed the clinical and molecular characteristics of Korean patients with coronal synostosis in this study. METHODS: Forty-three Korean...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Nuclear Proteins

Share to Receptor, Fibroblast Growth Factor, Type 2

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Twist-Related Protein 1

Source

Identifiers

PMID: 22544111
DOI: 10.1097/PRS.0b013e31824a2dda

Genes

TWIST1
FGFR3
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

Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations.PMID 22544111Read ↗

Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?Semantic proximity Read ↗

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.Semantic proximity Read ↗

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.Semantic proximity Read ↗

A comprehensive screen of genes implicated in craniosynostosis.Semantic proximity Read ↗

Insights into the development of molecular therapies for craniosynostosis.Semantic proximity Read ↗

Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.Semantic proximity Read ↗

NGS targeted screening of 100 Scandinavian patients with coronal synostosis.Semantic proximity Read ↗

The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases.Semantic proximity Read ↗

Bilateral coronal craniosynostosis with novel TWIST1 mutation.Semantic proximity Read ↗

Clinical and genetic characteristics of craniosynostosis in Hungary.Semantic proximity Read ↗

Saethre-Chotzen syndrome: a case report.Semantic proximity Read ↗

The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis.Semantic proximity Read ↗

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