ReviewMolecular syndromology2019
Genetic Causes of Craniosynostosis: An Update.
Review in Molecular syndromology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 3 of them syntheses 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
36 citing papers in PubMed, 3 syntheses or guidelines pooled it, 66 citations in OpenAlex.
- Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.Communications biology · 2023Pooled it
- The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Pooled it
- Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.Genes · 2023Pooled it
- Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025Article
- Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis.Disease models & mechanisms · 2025Article
- Article
- Reverse repurposing: Potential utility of cancer drugs in nonmalignant illnesses.Med (New York, N.Y.) · 2024Review
- Neural crest development and disorders: from patient to model system and back again - the NEUcrest conference.Biology open · 2024Article
- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- Current understanding of children's head shape and its impact on health: a cross-sectional study among pediatric medical staff in China.Translational pediatrics · 2024Article
- Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.Scientific reports · 2023Article
- Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies.Molecular syndromology · 2023Article
- Shifting the Focus ofMolecular syndromology · 2023Article
- No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B.Clinical case reports · 2023Article
- Dissecting the Complexity of Skeletal-Malocclusion-Associated Phenotypes: Mouse for the Rescue.International journal of molecular sciences · 2023Review
- SMAD6-deficiency in human genetic disorders.NPJ genomic medicine · 2022Review
- Cranium growth, patterning and homeostasis.Development (Cambridge, England) · 2022Article
- ERN CRANIO patient coverage of craniosynostosis in Europe.Orphanet journal of rare diseases · 2022Article
- The Expanding Phenotypic Spectrum ofMolecular syndromology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been evidence that mutations were causally related to craniosynostosis. Facilitated by rapid technological developments, many others have been identified since then. Reviewing the literature, we characterize the most common craniosynostosis syndromes followed by a description of the novel causes that were identified between January 2015 and December 2017.
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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 Socratic graph.