ReviewAmerican journal of medical genetics. Part A2024
Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.
Review in American journal of medical genetics. Part A, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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.
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
7 citing papers in PubMed.
- Anaesthetic challenges in central hepatectomy for hepatoblastoma in an infant with Simpson-Golabi-Behmel syndrome.Indian journal of anaesthesia · 2026Article
- Diffuse hemispheric glioma, H3 G34-mutant, in Simpson-Golabi-Behmel syndrome: the first reported case.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygousJCEM case reports · 2026Article
- Identification of Three NovelGenes · 2026Review
- Article
- Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith-Wiedemann Syndrome and Other Predisposition Syndromes.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach.Orphanet journal of rare diseases · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
Abstract
Simpson-Golabi-Behmel syndrome (SGBS) is a rare congenital overgrowth condition characterized by macrosomia, macroglossia, coarse facial features, and development delays. It is caused by pathogenic variants in the GPC3 gene on chromosome Xq26.2. Here, we performed a comprehensive literature review and phenotyping of known patients with molecularly confirmed SGBS and reviewed a novel cohort of 22 patients. Using these data, we characterized the tumor risk for Wilms tumor and hepatoblastoma to suggest appropriate screening for this patient population. In addition, we discuss the phenotypic overlap between SGBS and Beckwith-Wiedemann Spectrum.
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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.