ArticleEuropean journal of human genetics : EJHG2015
Association of mutations in FLNA with craniosynostosis.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Case Report: genotype-phenotype correlations inFrontiers in genetics · 2025Article
- Review
- Multi-directional Cranial Distraction Osteogenesis for Treating Sagittal Synostosis with Frontometaphyseal Dysplasia: A Case Report.Plastic and reconstructive surgery. Global open · 2021Article
- Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1.Frontiers in pediatrics · 2021Article
- FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.BMC medical genetics · 2018Article
- Genetic Requirement ofPlastic and reconstructive surgery. Global open · 2018Article
- Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2018Review
- Genetic advances in craniosynostosis.American journal of medical genetics. Part A · 2017Review
- Diagnostic value of exome and whole genome sequencing in craniosynostosis.Journal of medical genetics · 2017Article
- Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.Journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 2 countries.
Funding
Abstract
Mutations of FLNA, an X-linked gene that encodes the cytoskeletal protein filamin A, cause diverse and distinct phenotypes including periventricular nodular heterotopia and otopalatodigital spectrum disorders (OPDS). Craniofacial abnormalities associated with OPDS include supraorbital hyperostosis, down-slanting palpebral fissures and micrognathia; craniosynostosis was previously described in association with FLNA mutations in two individual case reports. Here we present four further OPDS subjects who have pathological FLNA variants and craniosynostosis, supporting a causal link. Together with the previously reported patients, frontometaphyseal dysplasia was the most common clinical diagnosis (four of six cases overall); five patients had multiple suture synostosis with the sagittal suture being the most frequently involved (also five patients). No genotype-phenotype correlation was evident in the distribution of FLNA mutations. This report highlights the need to consider a filaminopathy in the differential diagnosis of craniosynostosis, especially in the presence of atypical cranial or skeletal features.
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Registered trials
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