ArticleEuropean journal of human genetics : EJHG2014
Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Pooled it
- Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.Scientific reports · 2022Pooled it
- Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis.BMC medical genomics · 2026Article
- TCF12-related bicoronal craniosynostosis complicated by a large middle fossa arachnoid cyst and developmental regression: a case report.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Human cranial stem cells: developmental, pathologic, and therapeutic implications.Frontiers in cell and developmental biology · 2026Review
- The clinical manifestations, molecular mechanisms and treatment of craniosynostosis.Disease models & mechanisms · 2022Review
- Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?Frontiers in pediatrics · 2021Article
- TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.Human molecular genetics · 2020Article
- Article
- Deviating dental arch morphology in mild coronal craniosynostosis syndromes.Clinical oral investigations · 2019Article
- Genetic Causes of Craniosynostosis: An Update.Molecular syndromology · 2019Review
- Syndromic Craniosynostosis: Complexities of Clinical Care.Molecular syndromology · 2019Review
- Article
- Two novel variants in theThe application of clinical genetics · 2019Article
- Calvarial osteoblast gene expression in patients with craniosynostosis leads to novel polygenic mouse model.PloS one · 2019Article
- A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Clinical genetics of craniosynostosis.Current opinion in pediatrics · 2017Review
- Genetic advances in craniosynostosis.American journal of medical genetics. Part A · 2017Review
- Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.Human mutation · 2016Article
- Language Impairments in ASD Resulting from a Failed Domestication of the Human Brain.Frontiers in neuroscience · 2016Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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. TCF12 molecular testing should be considered in patients with unilateral- or bilateral-coronal synostosis associated or not with syndactyly, after having excluded mutations in the TWIST1 gene and the p.Pro250Arg mutation in FGFR3.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.