{"id":"W2614871251","doi":"10.1002/1096-8628(20010915)103:1<75::aid-ajmg1502>3.0.co;2-r","title":"Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G?C genotype","year":2001,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"Credit Valley Hospital; North York General Hospital; Hamilton Regional Laboratory Medicine Program; McMaster University","funders":"","keywords":"Smith–Lemli–Opitz syndrome; Holoprosencephaly; Genotype; Compound heterozygosity; Biology; Endocrinology; Mutation; Fetus; Internal medicine; Amniotic fluid; Genetics; Pregnancy; Medicine; Reductase; Gene; 7-Dehydrocholesterol reductase; Enzyme","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":[0.000121283,0.0008593668,0.0003565855,0.0007344903,0.0002923175,0.0001854633,0.0002147878,0.0005906544,0.001640673],"category_scores_gemma":[0.0007254049,0.0002016274,0.0001907264,0.0002118442,0.0007718351,0.000163908,0.0004917253,0.000378333,0.0002334301],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001792656,"about_ca_system_score_gemma":0.0001730608,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007162236,"about_ca_topic_score_gemma":0.0008644175,"domain_scores_codex":[0.9998624,0.00001984961,0.00001692255,0.00003681334,0.00003277695,0.00003117167],"domain_scores_gemma":[0.9996427,0.0001167635,0.0001190584,0.00001693379,0.00001329651,0.00009121069],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000651449,0.00007395278,0.08617485,0.000198836,0.00008863304,0.6850757,0.0007924798,0.0002916885,0.2140016,0.0009986887,0.0003293807,0.01132277],"study_design_scores_gemma":[0.00005993473,0.0006425299,0.1809685,0.00002528452,0.0001125178,0.7584082,0.0003069124,0.0004359915,0.05614565,0.0005869503,0.002273064,0.00003453487],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979565,0.0002835394,0.0003932048,0.00006885402,0.00001220419,0.000008912425,0.0000667991,0.00002602515,0.001183857],"genre_scores_gemma":[0.9988932,0.0001794438,0.000432204,0.00002131353,0.00001489345,0.000006302773,0.00005304701,0.00000582089,0.0003937511],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001640673,"threshold_uncertainty_score":0.005488634,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009153068221788328,"score_gpt":0.2687011790269973,"score_spread":0.259548110805209,"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."}}