{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002833699,0.00007151039,0.0001741459,0.00005296983,0.0000381233,0.00000178702,0.0001686608,0.00006482345,0.000006321363],"category_scores_gemma":[0.0004776898,0.00004595086,0.00001922393,0.00005804758,0.001072391,0.000003451972,0.0001113564,0.000117735,3.230138e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002229736,"about_ca_system_score_gemma":0.000113886,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002314495,"about_ca_topic_score_gemma":0.001128576,"domain_scores_codex":[0.9991193,0.0001107906,0.0002728546,0.0001731732,0.0002345057,0.00008936506],"domain_scores_gemma":[0.9993424,0.00004021213,0.0001901939,0.0003005981,0.0001030032,0.00002363966],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006686874,0.00006820005,0.9579142,0.00003876759,0.00002265685,7.903795e-7,0.0002810391,0.00002495242,0.04111039,0.000009278368,0.0001200342,0.0003428738],"study_design_scores_gemma":[0.001933268,0.0003379277,0.9936596,0.000119189,0.00002226028,0.000002531768,0.0001146753,0.000172084,0.003449306,0.0001089022,0.00003471922,0.00004554177],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968821,0.002245877,0.00002587316,0.0002761497,0.0001014155,0.0004233794,0.0000106807,4.795754e-7,0.00003401292],"genre_scores_gemma":[0.9995795,0.0002437661,0.00004761955,0.00002534806,0.00001050782,0.000008019612,0.00001839834,0.00000673165,0.00006008016],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03766109,"threshold_uncertainty_score":0.395127,"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."}}