ELECTRONIC LETTER Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada
Bibliographic record
Abstract
Smith-Lemli-Opitz syndrome (SLOS, OMIM 270400) is anautosomal recessive disorder of cholesterol biosynthesisresulting from deficient 3β-hydroxysterol ∆7-reductase (DHCR7) activity.1 2 Patients with SLOS have a characteristic facial phenotype, various degrees of cleft palate and of syndactyly of toes 2 and 3, failure to thrive, behavioural prob-lems, and mental retardation in addition to variable combina-tions of external and internal malformations.3–5 The spectrum of severity extends from prenatal death with holoprosen-cephaly or other lethal malformations to minimally physically affected patients with normal intelligence or minimal intellectual impairment. Most patients with SLOS have abnormally low levels of plasma cholesterol and all have raised levels of its immediate precursor, 7-dehydrocholesterol (7DHC).2 The DHCR7 gene has been mapped to chromosome 11q13, spans approximately 14 kb, and encodes a protein of 475
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.057 | 0.004 |
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".