{"id":"W2790429892","doi":"10.5582/irdr.2018.01010","title":"Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man","year":2018,"lang":"en","type":"article","venue":"Intractable & Rare Diseases Research","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"Natural Science Foundation of Shandong Province; National Natural Science Foundation of China","keywords":"Osteogenesis imperfecta; Medicine; Ehlers–Danlos syndrome; Compound heterozygosity; Type I collagen; Pathology; Biopsy; Mutation; Anatomy; Genetics; Gene; Biology","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":[0.0001783091,0.0007663545,0.0004651798,0.001259519,0.001874364,0.0002994564,0.0003251186,0.000734492,0.001270934],"category_scores_gemma":[0.000638438,0.0004182682,0.0004763024,0.000901735,0.0006935417,0.0003583106,0.0005399339,0.0004308745,0.0002649586],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005559686,"about_ca_system_score_gemma":0.0006090669,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01398852,"about_ca_topic_score_gemma":0.01363529,"domain_scores_codex":[0.9998301,0.00001749916,0.00002069765,0.00005438376,0.00003389244,0.00004337039],"domain_scores_gemma":[0.9997796,0.00004671023,0.00004734565,0.00001233785,0.00001536051,0.00009857814],"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":[0.0001910437,0.0003024279,0.1760906,0.0001142503,0.000117442,0.790116,0.00587558,0.0002120485,0.01742149,0.000569888,0.0006302511,0.008359087],"study_design_scores_gemma":[0.0000700943,0.0006874219,0.5089636,0.00004295346,0.0001826538,0.4838777,0.001721972,0.0007061249,0.001641755,0.0003538089,0.00169198,0.00005983893],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982121,0.0003178907,0.0001390425,0.0002114799,0.00001829153,0.00002340649,0.00003110506,0.00001113137,0.001035475],"genre_scores_gemma":[0.9986203,0.0002676762,0.0001489017,0.0001691697,0.00003311024,0.000009235598,0.00002692126,0.000003317293,0.0007214286],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01398852,"threshold_uncertainty_score":0.02781421,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0232176437307597,"score_gpt":0.3670997756869658,"score_spread":0.3438821319562061,"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."}}