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

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.

European journal of human genetics : EJHG - 1 Dec 2014

di Rocco Federico, Baujat Geneviève, Arnaud Eric, Rénier Dominique, Laplanche Jean-Louis, Daire Valérie Cormier, Collet Corinne

Abstract excerpt

TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre-Chotzen syndrome. T...

Read the complete abstract on PubMed

Topics

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

Share to Acrocephalosyndactylia
Share to Basic Helix-Loop-Helix Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Infant

Share to Nuclear Proteins

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Synostosis

Share to Twist-Related Protein 1

Source

Open in PubMed Open full text

Identifiers

PMID: 24736737
DOI: 10.1038/ejhg.2014.57
PMCID: PMC4231413

Genes

TCF12
FGFR3
TWIST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24736737-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.PMID 24736737Read ↗

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

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.Semantic proximity Read ↗

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

Extended Phenotype of Bilateral Coronal Craniosynostosis Due to Novel TCF12 Mutation.Semantic proximity Read ↗

Lumbar hemivertebra associated with coronal craniosynostosis due to TCF12 mutation: an expansion of the axial skeletal phenotype.Semantic proximity Read ↗

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.Semantic proximity Read ↗

Lumbar Hemivertebra Associated with Coronal Craniosynostosis due to TCF12 Mutation: An Expansion of the Axial Skeletal Phenotype.Semantic proximity Read ↗

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related 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 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 ↗

Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care.Semantic proximity Read ↗

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