{"id":"W2030422708","doi":"10.1002/ajmg.a.31149","title":"Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes?","year":2006,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":84,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Children's Hospital of Eastern Ontario","funders":"","keywords":"Medicine; Scalp; Pediatrics; Dermatology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0005399964,0.0007148353,0.002096521,0.0002050017,0.000121737,0.0001112069,0.000791328,0.0005493393,0.0001199546],"category_scores_gemma":[0.0001943585,0.0004993591,0.0003721114,0.0002904326,0.001060396,0.000006033233,0.0003163651,0.0005098781,0.000007301002],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002863298,"about_ca_system_score_gemma":0.001349424,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002337484,"about_ca_topic_score_gemma":0.00001367614,"domain_scores_codex":[0.9957736,0.0004612202,0.001374354,0.0007321587,0.00105813,0.0006005403],"domain_scores_gemma":[0.9966758,0.0001310604,0.001158778,0.0005210628,0.0001717375,0.001341601],"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":[0.0001893322,0.0002672866,0.00005263496,0.001505663,0.0009171726,0.003161127,0.00006583865,0.00000941024,0.00002653322,0.000001868948,0.004535486,0.9892676],"study_design_scores_gemma":[0.0009292155,0.005330371,0.00002496348,0.002805523,0.001725818,0.09479091,0.0002153967,0.0000567768,0.00001580057,0.00001832853,0.8932744,0.0008124592],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.03485497,0.9641616,0.0001286613,0.00004951991,0.0002091171,0.0003695907,0.00009046753,0.000009809955,0.0001263076],"genre_scores_gemma":[0.01045527,0.9870313,0.001081684,0.000147896,0.0007248859,0.00001852344,0.00009277802,0.0001075616,0.0003400704],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9884552,"threshold_uncertainty_score":0.9997458,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02499090766268465,"score_gpt":0.3464194383234775,"score_spread":0.3214285306607929,"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."}}