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

doi:10.1038/ejhg.2014.205

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

Community

Back to search

Article

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

European journal of human genetics : EJHG - 1 Jul 2015

Paumard-Hernández Beatriz, Berges-Soria Julia, Barroso Eva, Rivera-Pedroza Carlos I, Pérez-Carrizosa Virginia, Benito-Sanz Sara, López-Messa Eva, Santos Fernando, García-Recuero Ignacio I, Romance Ana, Ballesta-Martínez Juliana María, López-González Vanesa, Campos-Barros Ángel, Cruz Jaime, Guillén-Navarro Encarna, Sánchez Del Pozo Jaime, Lapunzina Pablo, García-Miñaur Sixto, Heath Karen E

Abstract excerpt

Craniosynostosis, caused by the premature fusion of one or more of the cranial sutures, can be classified into non-syndromic or syndromic and by which sutures are affected. Clinical assignment is a difficult challenge due to the high phenotypic variability observed between syndromes. During routine diagnostics, we screened 182 Spanish craniosynostosis probands, implementing a four-tiered cascade screening of...

Read the complete abstract on PubMed

Topics

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

Share to Basic Helix-Loop-Helix Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniosynostoses

Share to Family Health

Share to Receptor, Fibroblast Growth Factor, Type 1

Share to Receptor, Fibroblast Growth Factor, Type 2

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Spain

Share to Twist-Related Protein 1

Source

Open in PubMed Open full text

Identifiers

PMID: 25271085
DOI: 10.1038/ejhg.2014.205
PMCID: PMC4463497

Genes

TCF12
TWIST1
EFNB1
FGFR1
FGFR2
FGFR3
IHH

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

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.PMID 25271085Read ↗

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

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

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

Clinical and genetic characteristics of craniosynostosis in Hungary.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 ↗

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

Clinical genetics of craniosynostosis.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 ↗

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.Semantic proximity Read ↗

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

Clinical dividends from the molecular genetic diagnosis of craniosynostosis†Semantic proximity Read ↗

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

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