{"id":"W2896968291","doi":"10.1002/ccr3.1873","title":"Identification of a de novo case of <i>COL5A1</i> ‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care","year":2018,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary; McGill University","funders":"","keywords":"Medicine; Ehlers–Danlos syndrome; Irritability; Girl; Outreach; Pediatrics; Dermatology; Internal medicine; Genetics","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":[0.0002300231,0.0008747273,0.0004190738,0.001132675,0.001207347,0.001047202,0.0008583308,0.002172992,0.001265617],"category_scores_gemma":[0.001962307,0.0006221475,0.0005143718,0.0005138865,0.0009616099,0.0007226456,0.0008401677,0.001610581,0.0003839455],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000886951,"about_ca_system_score_gemma":0.0005190458,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004811056,"about_ca_topic_score_gemma":0.005691277,"domain_scores_codex":[0.9995604,0.00005322595,0.00005961968,0.0001131082,0.00009123468,0.0001223416],"domain_scores_gemma":[0.9991552,0.000225611,0.000245479,0.00004638108,0.00006784058,0.0002595157],"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":[0.0000108816,0.00002341385,0.01095789,0.00001159917,0.00000304191,0.9861568,0.000236356,0.00003750128,0.001644893,0.0001112503,0.0000998258,0.0007063984],"study_design_scores_gemma":[0.000003100213,0.00005774116,0.01053029,0.00001511554,0.000008465149,0.9875745,0.0002925344,0.0001616885,0.000935832,0.00007055244,0.0003437488,0.000006426302],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994221,0.0006124077,0.0009449683,0.0009485696,0.0000661927,0.00004161901,0.00009391519,0.0000481552,0.003023366],"genre_scores_gemma":[0.9979195,0.0004186171,0.0007664206,0.0001861907,0.00006612609,0.000008899006,0.00004299379,0.00001285206,0.0005783914],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004811056,"threshold_uncertainty_score":0.009566069,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04326836465672754,"score_gpt":0.4305288186496616,"score_spread":0.3872604539929341,"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."}}