{"id":"W2043397220","doi":"10.1002/ajmg.a.32022","title":"Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings","year":2007,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Bone and Dental Protein Studies","field":"Medicine","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"","keywords":"Neuropathology; Medicine; Osteosclerosis; Autopsy; Pathology; Dysplasia; Facial dysmorphism; Pediatrics","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":[0.0001233321,0.0007880218,0.0003698159,0.0007953725,0.0003497142,0.0002380614,0.0002823157,0.0009688483,0.001425912],"category_scores_gemma":[0.001018182,0.0002788172,0.0001621876,0.0003298582,0.0006251641,0.0002109601,0.0006725717,0.000366448,0.0002272292],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001222816,"about_ca_system_score_gemma":0.0002410813,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009407431,"about_ca_topic_score_gemma":0.001589023,"domain_scores_codex":[0.9998177,0.00002521477,0.00001541949,0.00005179452,0.00005062153,0.00003935388],"domain_scores_gemma":[0.9995856,0.0001716343,0.00009211616,0.00002975831,0.00002041383,0.0001005799],"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":[0.00007514059,0.0000265571,0.03197306,0.00005075203,0.00003670399,0.9324728,0.0002589537,0.00012658,0.02667448,0.0005191175,0.0003864932,0.00739942],"study_design_scores_gemma":[0.00001637953,0.00005672983,0.02550024,0.000008567063,0.00001820961,0.9702393,0.00009203902,0.0001348836,0.00246349,0.0002283928,0.001233101,0.000008592839],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9896116,0.001787282,0.002748989,0.000387286,0.00003356147,0.0000486123,0.0003358253,0.000093028,0.004953872],"genre_scores_gemma":[0.9968179,0.0007236801,0.001213879,0.00008494889,0.00003244382,0.000008279296,0.000132556,0.000009352968,0.0009768801],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001425912,"threshold_uncertainty_score":0.00477016,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0157962386431605,"score_gpt":0.2861136187733861,"score_spread":0.2703173801302257,"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."}}