ArticleRheumatology advances in practice2024
Familial Mediterranean fever gene variations could trigger
Article in Rheumatology advances in practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Neurological involvement in children with familial Mediterranean fever: a systematic review.Pediatric rheumatology online journal · 2025Pooled it
- VPS16-Related Dystonia: Expanding the Clinical Spectrum and Therapeutic Insights.Movement disorders clinical practice · 2026Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: We describe the clinical pictures of an index case with dystonia and his family resulting from Methods: A 17-year-old male had generalized dystonia that started at age 6 years, non-febrile abdominal pain attacks and was diagnosed with type 1 diabetes at age 14 years. Meanwhile, his 13-year-old sister had the same clinical presentation. His father was diabetic and his mother was asymptomatic. There was no consanguinity between the parents. Genetic variations were detected with whole exome sequencing. Results: Conclusions: The occurrence of these diseases in siblings but their absence in the parents suggests the idea that the coexistence of two separate variations in the
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