{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0007224457,0.0003219504,0.0003446757,0.0005251446,0.0003194552,0.000144458,0.0008582998,0.0002465177,0.001879725],"category_scores_gemma":[0.002068656,0.0003083592,0.0001423712,0.001564684,0.0005298019,0.00003423218,0.0007403434,0.0004471204,0.0004740294],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001528235,"about_ca_system_score_gemma":0.0006600741,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001350824,"about_ca_topic_score_gemma":0.001366529,"domain_scores_codex":[0.9958737,0.0005370775,0.0003411825,0.001003502,0.000927642,0.00131691],"domain_scores_gemma":[0.9972545,0.0001904859,0.00005164767,0.001051925,0.001018036,0.000433396],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003279392,0.00120934,0.4877968,0.0002213779,0.0002376129,0.0007926861,0.0002749844,0.00001986215,0.4822848,0.00007071518,0.009584717,0.01422765],"study_design_scores_gemma":[0.004902413,0.004303824,0.903739,0.0002098547,0.00004167231,0.0002532501,0.001848864,0.0006273968,0.04393771,0.000805001,0.03795186,0.001379177],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9905514,0.005025007,0.00001138468,0.0003025752,0.000146206,0.0009028983,0.0001416975,0.00003129546,0.002887514],"genre_scores_gemma":[0.995976,0.0005219496,0.00002928327,0.00009206735,0.0003782578,0.0002143143,0.000351252,0.00008396139,0.002352868],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4383471,"threshold_uncertainty_score":0.9999369,"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."}}