ArticleEuropean journal of human genetics : EJHG2014
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
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, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- From gene to geometry: the molecular morphogenesis of the fourth ventricle angle and its role in predicting brainstem dysfunction among Chiari I malformation patients.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis.Molecular genetics & genomic medicine · 2026Article
- Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.Turkish archives of pediatrics · 2025Article
- Multi-omic spatial effects on high-resolution AI-derived retinal thickness.Nature communications · 2025Article
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.Journal of clinical medicine · 2024Review
- Fetal MRI of the supratentorial brain abnormalities: what we should know about ventriculomegaly?Japanese journal of radiology · 2023Review
- Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: ArePharmaceuticals (Basel, Switzerland) · 2022Article
- Investigating the effects of compound paralogous EPHB receptor mutations on mouse facial development.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- Case report: Craniofrontonasal syndrome caused by a novel variant in theFrontiers in genetics · 2022Article
- Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a NovelMolecular syndromology · 2021Article
- Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.Orphanet journal of rare diseases · 2021Article
- Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.Scientific reports · 2021Article
- Eph-Ephrin Signaling Mediates Cross-Talk Within the Bone Microenvironment.Frontiers in cell and developmental biology · 2021Review
- Aberrant cell segregation in the craniofacial primordium and the emergence of facial dysmorphology in craniofrontonasal syndrome.PLoS genetics · 2020Article
- Syndromic Craniosynostosis: Complexities of Clinical Care.Molecular syndromology · 2019Review
- Genetic Causes of Craniosynostosis: An Update.Molecular syndromology · 2019Review
- Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR ofMolecular syndromology · 2019Article
- The osteoprogenitor-specific loss of ephrinB1 results in an osteoporotic phenotype affecting the balance between bone formation and resorption.Scientific reports · 2018Article
- Mllt10 knockout mouse model reveals critical role of Af10-dependent H3K79 methylation in midfacial development.Scientific reports · 2017Article
- Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.Molecular syndromology · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to adequately counsel patients with EFNB1 mutations and their parents, and to improve diagnosis of new patients, more information about the phenotypic features is needed. This study included 23 patients (2 male, 21 female) with confirmed EFNB1 mutations. All patients underwent a thorough physical examination and photographs were taken. If available, radiological images were also consulted. Hypertelorism, longitudinal ridging and/or splitting of nails, a (mild) webbed neck and a clinodactyly of one or more toes were the only consistent features observed in all patients. Frequently observed phenotypic features were bifid tip of the nose (91%), columellar indentation (91%) and low implantation of breasts (90%). In comparison with anthropometric data of facial proportions, patients with CFNS had a significantly different face in multiple respects. An overview of all phenotypic features is shown. Patients with EFNB1 mutations have a clear phenotype. This study will facilitate genetic counseling of parents and patients, and contribute to the diagnostic and screening process of patients with suspected CFNS.
Indexed as
Identifiers
What OpenQuestion holds
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.