{"id":"W2011532858","doi":"10.1002/ajmg.a.10175","title":"A boy with developmental delay, malformations, and evidence of a connective tissue disorder—possibly a new type of cutis laxa","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"","keywords":"Cutis laxa; Connective tissue; Connective Tissue Disorder; Medicine; Dermatology; Anatomy; Pathology","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":[],"consensus_categories":[],"category_scores_codex":[0.0004917509,0.0001178624,0.0003019853,0.00008815497,0.00003154576,0.000008249453,0.0002233505,0.00006224773,0.00007506423],"category_scores_gemma":[0.00126002,0.00009587013,0.00003854087,0.0003114143,0.0004579076,0.000007706929,0.00007759096,0.0001449021,0.000001220027],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001421617,"about_ca_system_score_gemma":0.001294456,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009391716,"about_ca_topic_score_gemma":0.0001516125,"domain_scores_codex":[0.9984909,0.0001609955,0.0004087897,0.0001484314,0.0006054337,0.0001854283],"domain_scores_gemma":[0.9987816,0.00009116049,0.0003609138,0.0001269651,0.0003843406,0.0002549709],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00442646,0.001023888,0.2466246,0.0004111825,0.001957267,0.0002233724,0.007106979,0.0002601932,0.1178624,0.0005086012,0.005942791,0.6136522],"study_design_scores_gemma":[0.01942518,0.1056373,0.1130979,0.005047477,0.0007507618,0.01537567,0.05311229,0.0006871232,0.4836702,0.001021693,0.1996481,0.002526246],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9800614,0.01188454,0.007396387,0.0003956849,0.00003100641,0.0001303421,0.000003224025,0.000001117644,0.00009625423],"genre_scores_gemma":[0.988856,0.004897849,0.006075971,0.00006809714,0.00002700384,0.000002766348,0.000002082841,0.00001274583,0.00005747766],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.611126,"threshold_uncertainty_score":0.390947,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02512036067936092,"score_gpt":0.3396570634553066,"score_spread":0.3145367027759457,"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."}}