{"id":"W1987000446","doi":"10.1097/00125817-200001000-00111","title":"Unique skeletal dysplasia with cataracts, ataxia, learning disability and mild facial dysmorphism","year":2000,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital","funders":"","keywords":"Facial dysmorphism; Medicine; Cataracts; Ataxia; Intellectual disability; Dermatology; Dysplasia; Pathology; Ophthalmology; Genetics; Biology; Psychiatry","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":[0.0003042421,0.001627696,0.001033356,0.00287493,0.001473885,0.0005760756,0.0007680565,0.001818387,0.003762397],"category_scores_gemma":[0.002237553,0.0006388418,0.0005615395,0.001531443,0.001317244,0.0004204331,0.001297416,0.0008930571,0.0007909943],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006024919,"about_ca_system_score_gemma":0.0009693257,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004041063,"about_ca_topic_score_gemma":0.008455572,"domain_scores_codex":[0.999273,0.00006734968,0.0000796711,0.000197983,0.0002335419,0.0001483492],"domain_scores_gemma":[0.9991328,0.000185979,0.0001848372,0.00008081667,0.0001044841,0.0003111032],"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":[0.0005792013,0.0001163732,0.02694556,0.0001490404,0.00007879702,0.9271518,0.0002506472,0.0005016765,0.02596538,0.002206618,0.002641757,0.01341321],"study_design_scores_gemma":[0.00004206681,0.000168116,0.04285548,0.00001138682,0.00004318786,0.9515918,0.00006883475,0.0002676283,0.002473538,0.0008872927,0.001566174,0.00002446548],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9628596,0.001828412,0.003769718,0.00134124,0.0002474966,0.0001975422,0.001920046,0.0004184238,0.02741761],"genre_scores_gemma":[0.9914283,0.0005097663,0.002081886,0.0003334411,0.0002378197,0.00003824509,0.0004279105,0.00008205334,0.004860568],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004041063,"threshold_uncertainty_score":0.01258647,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009361822802710215,"score_gpt":0.2533470401970438,"score_spread":0.2439852173943336,"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."}}