{"id":"W2029201008","doi":"10.1002/1096-8628(20010422)100:2<164::aid-ajmg1244>3.0.co;2-w","title":"A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED)","year":2001,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; McGill University","funders":"","keywords":"Ectodermal dysplasia; Genetics; Eponym; Medicine; Dermatology; Anatomy; Biology","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":[0.00009832491,0.0005158286,0.0001736585,0.0006701272,0.001118616,0.0005542292,0.000130863,0.001032411,0.002828575],"category_scores_gemma":[0.0004665211,0.0001389701,0.0001693082,0.0003716158,0.0008404087,0.0008064163,0.0002773381,0.0005129886,0.0009432395],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002738039,"about_ca_system_score_gemma":0.0004439193,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002610992,"about_ca_topic_score_gemma":0.006127175,"domain_scores_codex":[0.9999075,0.00001931073,0.000006521451,0.00002544057,0.00002502585,0.00001612582],"domain_scores_gemma":[0.9999192,0.00002752057,0.0000106495,0.000004584968,0.000009628565,0.0000285035],"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":[0.00050256,0.0000917438,0.02078966,0.0007464856,0.00008198037,0.349844,0.01144647,0.0003615331,0.06530801,0.08264802,0.195837,0.2723425],"study_design_scores_gemma":[0.00002311316,0.0002734622,0.007821711,0.0001254955,0.00005215769,0.3989281,0.001749376,0.0001992165,0.004565003,0.008414285,0.5777815,0.00006646368],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4660394,0.1432838,0.03011305,0.07455352,0.02927704,0.0001840004,0.001425786,0.00287744,0.252246],"genre_scores_gemma":[0.7569962,0.03429695,0.01423416,0.01568903,0.003523862,0.00004272213,0.0002728698,0.0001534679,0.1747908],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002828575,"threshold_uncertainty_score":0.009462476,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006765671861508405,"score_gpt":0.2590542370383025,"score_spread":0.2522885651767941,"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."}}