{"id":"W2025702700","doi":"10.1097/mcd.0b013e32832a9e62","title":"Dysmorphology of Barth syndrome","year":2009,"lang":"en","type":"article","venue":"Clinical Dysmorphology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Infection and Immunity","funders":"Barth Syndrome Foundation","keywords":"Medicine; Xq28; Cardiolipins; Phenotype; Genetics; Gene; Cardiolipin; Membrane; 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":[0.0001133879,0.0006988351,0.0004346719,0.001143104,0.000257219,0.0003924189,0.0002589589,0.0005652446,0.005495758],"category_scores_gemma":[0.0008282662,0.0001814261,0.0001557144,0.0004403818,0.000529894,0.0003691979,0.0003687144,0.0004933839,0.001804345],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001774178,"about_ca_system_score_gemma":0.0001625731,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007901987,"about_ca_topic_score_gemma":0.0005183082,"domain_scores_codex":[0.999782,0.00002792668,0.00001771583,0.00005952369,0.00007175848,0.00004101367],"domain_scores_gemma":[0.9997267,0.00005405004,0.000080718,0.00002938952,0.00003817772,0.00007100245],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000786681,0.0001077609,0.04832229,0.000647124,0.0001261915,0.6067674,0.001410422,0.000767811,0.1735844,0.00924613,0.03041728,0.1278166],"study_design_scores_gemma":[0.00002644661,0.00009036502,0.04882129,0.00007993758,0.00002272659,0.9321238,0.0001172778,0.0001619611,0.004719605,0.0008529213,0.01294971,0.00003399324],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8780991,0.0116675,0.007210436,0.002557835,0.0005248233,0.0001985774,0.002706469,0.0009752408,0.09606002],"genre_scores_gemma":[0.9795156,0.003450908,0.002359633,0.000546983,0.0001768306,0.00003456841,0.0005286445,0.00009302246,0.01329385],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005495758,"threshold_uncertainty_score":0.01838511,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02754557339662273,"score_gpt":0.3291093843091941,"score_spread":0.3015638109125714,"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."}}