{"id":"W2010417360","doi":"10.1002/ajmg.a.31788","title":"The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance","year":2007,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":51,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"","keywords":"Anophthalmia; Microphthalmia; Diaphragmatic hernia; Medicine; Agenesis; Hypoplasia; Pulmonary hypoplasia; Pediatrics; Anatomy; Surgery; Pregnancy; Fetus; Hernia; Genetics; 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":[0.0001554586,0.0007068672,0.0004202884,0.001237532,0.0007630755,0.000259665,0.0003051493,0.000566181,0.002039721],"category_scores_gemma":[0.001175026,0.0002654876,0.0002799912,0.0005292789,0.001166218,0.000258617,0.0006686319,0.0004247708,0.0002634741],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001927748,"about_ca_system_score_gemma":0.0002852551,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001123761,"about_ca_topic_score_gemma":0.001640425,"domain_scores_codex":[0.9997564,0.00003049171,0.00004118406,0.00006997004,0.00005472765,0.00004724424],"domain_scores_gemma":[0.999252,0.0002251359,0.0002128765,0.00006568113,0.00004522665,0.0001990091],"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":[0.0002388826,0.0001085346,0.4141913,0.0002251812,0.0001563387,0.5076777,0.00114244,0.0002385739,0.02951238,0.000415411,0.001250404,0.04484281],"study_design_scores_gemma":[0.00002598015,0.0002308448,0.09087715,0.00001109959,0.0000413251,0.9049643,0.0001947846,0.0001092413,0.002262797,0.00007341543,0.001189876,0.00001920244],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997883,0.0005626186,0.0004708765,0.00005460646,0.00001641816,0.00001664579,0.00006401291,0.00002492493,0.0009069465],"genre_scores_gemma":[0.9985842,0.0003189471,0.0006574446,0.00002979747,0.00002395367,0.000008488788,0.00006294616,0.000005904636,0.0003083712],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002039721,"threshold_uncertainty_score":0.006823599,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02245888957181065,"score_gpt":0.3053819499592653,"score_spread":0.2829230603874547,"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."}}