{"id":"W2626529117","doi":"10.1038/gim.2017.70","title":"A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history","year":2017,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre","funders":"National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Science Foundation","keywords":"Ehlers–Danlos syndrome; Natural history; Joint hypermobility; Cohort; Biology; Connective tissue; Pathology; Myopathy; Family history; Dermatology; Medicine; Genetics; Internal medicine; Anatomy","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":[0.0002488704,0.0007575105,0.0004837294,0.0009877316,0.0009337794,0.0005632371,0.0003673655,0.0004033717,0.001443394],"category_scores_gemma":[0.001429076,0.000388972,0.000304377,0.0005386246,0.0004668719,0.0004701075,0.0007906341,0.0003639263,0.0003141024],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002608852,"about_ca_system_score_gemma":0.0002345331,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001667628,"about_ca_topic_score_gemma":0.001399978,"domain_scores_codex":[0.9996361,0.00004459104,0.00003982892,0.000141669,0.00006572781,0.00007209478],"domain_scores_gemma":[0.999403,0.0001295534,0.0001605731,0.00007208966,0.00006268595,0.0001720785],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000253432,0.0001168027,0.977485,0.00001269339,0.00004279908,0.01242025,0.0005423463,0.00007208318,0.004110711,0.0000493051,0.0001911675,0.00470341],"study_design_scores_gemma":[0.00006637164,0.0005568094,0.8912325,0.00001875093,0.00007338065,0.1040331,0.0007894668,0.000545618,0.001007282,0.0001179206,0.001531,0.00002781067],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995705,0.00009265866,0.0001039448,0.00001404521,0.000002969118,0.000008924805,0.00006413957,0.000003592811,0.0001390258],"genre_scores_gemma":[0.9991756,0.00009195886,0.0001336626,0.00002276315,0.00001175058,0.00001347512,0.0002740273,0.000004775394,0.0002719648],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001667628,"threshold_uncertainty_score":0.004828632,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02760847766185544,"score_gpt":0.3114894631882763,"score_spread":0.2838809855264209,"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."}}