{"id":"W1970834053","doi":"10.1002/ajmg.a.32014","title":"Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters—A new syndrome","year":2007,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"Jeffrey Modell Foundation","keywords":"Gonadal dysgenesis; Immunodeficiency; Lung; Fibrosis; Pulmonary fibrosis; Medicine; Dysgenesis; Immunology; Biology; Pathology; Internal medicine; Anatomy; Immune system","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":[0.0003590863,0.00114148,0.0005619512,0.001008593,0.0009806425,0.0004844786,0.0003861101,0.001121545,0.003268926],"category_scores_gemma":[0.001382967,0.0005139724,0.0003682869,0.0003354585,0.0008461879,0.0003944126,0.001097667,0.0007777584,0.0005223488],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002368088,"about_ca_system_score_gemma":0.0002647435,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000745329,"about_ca_topic_score_gemma":0.001008704,"domain_scores_codex":[0.9996039,0.00007669447,0.00004832062,0.0001024455,0.00009574767,0.00007272515],"domain_scores_gemma":[0.9994085,0.0001375342,0.000149072,0.0000524642,0.00003051781,0.0002219935],"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":[0.0002262519,0.0001218084,0.08443408,0.00008824591,0.00005207681,0.8656973,0.001794418,0.0001139897,0.03880372,0.0006824129,0.0004183372,0.007567469],"study_design_scores_gemma":[0.00004180499,0.0003531746,0.04301329,0.00002023876,0.00002867477,0.9522893,0.0003156023,0.0001575555,0.002209579,0.0001836899,0.001373228,0.00001378189],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965296,0.0005352084,0.0004535045,0.0001663881,0.00004352278,0.00001918527,0.00007669998,0.0000411594,0.002134713],"genre_scores_gemma":[0.9981129,0.0002998532,0.0003882724,0.00009407607,0.00005555164,0.000008866005,0.00006397853,0.00001253166,0.0009639496],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003268926,"threshold_uncertainty_score":0.01093566,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008367044030830781,"score_gpt":0.2840076999282984,"score_spread":0.2756406558974676,"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."}}