{"id":"W3216901856","doi":"10.1136/jmedgenet-2020-107623","title":"Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)","year":2021,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Japan Society for the Promotion of Science; Meijo University; Lastentautien Tutkimussäätiö; Ministry of Health, Labour and Welfare; Japan Foundation for Pediatric Research; National Human Genome Research Institute; Japan Medical Association; Fonds Wetenschappelijk Onderzoek; Vlaamse regering; Japan Agency for Medical Research and Development","keywords":"Joint hypermobility; Medicine; Ehlers–Danlos syndrome; Muscle contracture; Hypertelorism; Dermatology; Short stature; Palpebral fissure; Pediatrics; Surgery; 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":[0.0002036146,0.0006226194,0.0004165495,0.001073652,0.0005322648,0.0003757247,0.0001741457,0.0003766163,0.001936888],"category_scores_gemma":[0.001069125,0.0003549547,0.0002786121,0.0006577229,0.0004034233,0.0003069098,0.0004107508,0.0002056206,0.0003085619],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002154842,"about_ca_system_score_gemma":0.0001664852,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002422691,"about_ca_topic_score_gemma":0.001528953,"domain_scores_codex":[0.9997489,0.00003033619,0.00004573317,0.00008117798,0.0000320455,0.00006175642],"domain_scores_gemma":[0.9995221,0.0001165549,0.0001569216,0.00002384569,0.00003674827,0.0001438489],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002299031,0.00004166881,0.9789965,0.00001703234,0.00003073682,0.01239649,0.0006308705,0.00009963175,0.00427957,0.00003051627,0.0001323792,0.003114708],"study_design_scores_gemma":[0.00002902258,0.0002866973,0.9588206,0.00001120147,0.00004344329,0.03919756,0.0004770414,0.0001612688,0.0004040661,0.00004104973,0.0005125453,0.00001550564],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995596,0.00006559142,0.00004211018,0.000009891665,0.00000225616,0.000005171281,0.00008504852,0.000003482007,0.0002269064],"genre_scores_gemma":[0.9995399,0.00005663758,0.00007849697,0.00001310183,0.000006254598,0.000006164998,0.000187391,0.000002098161,0.0001100492],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002422691,"threshold_uncertainty_score":0.006479502,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007993699187472527,"score_gpt":0.2962406928881192,"score_spread":0.2882469937006467,"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."}}