{"id":"W2053941752","doi":"10.1002/ajmg.c.31343","title":"Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology","year":2012,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":215,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ministry of Agriculture; McMaster University Medical Centre","funders":"","keywords":"Smith–Lemli–Opitz syndrome; Microcephaly; Syndactyly; Polydactyly; Endocrinology; Internal medicine; Biology; Phenotype; Medicine; Physiology; Genetics; Gene; 7-Dehydrocholesterol reductase; Reductase","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001660136,0.0003165247,0.0004645924,0.001192494,0.0001688296,0.0003020669,0.0002861073,0.0004276901,0.001174221],"category_scores_gemma":[0.0003818865,0.0001039147,0.0001812445,0.00139428,0.0003396526,0.000341826,0.0002546155,0.0003887765,0.0003056527],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003347554,"about_ca_system_score_gemma":0.0003000674,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001168086,"about_ca_topic_score_gemma":0.0008229214,"domain_scores_codex":[0.9998955,0.00001902947,0.00001525204,0.00002677021,0.00002861881,0.00001483394],"domain_scores_gemma":[0.9998858,0.0000363466,0.00003889341,0.000002734274,0.00001557414,0.00002059354],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003105558,0.0001479193,0.1964037,0.003248418,0.000218532,0.02646042,0.0009189695,0.0007866999,0.01027411,0.005349019,0.02076385,0.7351179],"study_design_scores_gemma":[0.00004776552,0.0003298251,0.5859262,0.002269538,0.0003072456,0.2687951,0.0008442484,0.0005866209,0.001108445,0.005549003,0.1341476,0.00008826741],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1480735,0.8396067,0.001607868,0.002159976,0.0001451737,0.00003592115,0.00044517,0.00009662448,0.007829118],"genre_scores_gemma":[0.2960664,0.6977757,0.00156283,0.0007783711,0.0005949609,0.00005484665,0.0008081723,0.00001812781,0.002340668],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.001192494,"threshold_uncertainty_score":0.003928125,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05387164042789371,"score_gpt":0.3666292719166758,"score_spread":0.3127576314887821,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}