A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report
Bibliographic record
Abstract
Background: Marfan syndrome (MFS) is an autosomal dominant multisystem connective tissue disorder with increased risk of aortopathy with a high risk of subsequent life-threatening aortic dissection. Diagnosing this condition is reliant on recognizing clinical features and genetic testing for confirming diagnosis, using the revised Ghent criteria. Case summary: ), designated c.7016G>C. Prior to identifying the new gene variant, this patient did not meet the revised Ghent criteria for MFS diagnosis. We present clinical and molecular evidence supporting the likely pathogenic nature of this variant, leading to earlier therapy and intervention. Discussion: The discovery of a new pathogenic gene will expand the current aortopathy and MFS database and may lead to more informed clinical management decisions for the timing and nature of interventions.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.003 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.002 |
| Bibliometrics | 0.004 | 0.002 |
| Science and technology studies | 0.003 | 0.003 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.007 | 0.004 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".