{"id":"W2170751744","doi":"10.1046/j.1525-1470.2003.20213.x","title":"Xp22.3 Microdeletion in a 19‐Year‐Old Girl with Clinical Features of MLS Syndrome","year":2003,"lang":"en","type":"article","venue":"Pediatric Dermatology","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"","keywords":"Medicine; Microdeletion syndrome; Girl; Microphthalmia; Dermatology; Genetics; Pediatrics; Gene; Biology; Phenotype","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":[0.0001450365,0.0001472343,0.0002860298,0.0001042001,0.00002603025,0.000005350413,0.0001484305,0.0002719632,0.00003966083],"category_scores_gemma":[0.0001734904,0.0001262529,0.00009089465,0.0001854571,0.0001175714,0.000002272529,0.00004351346,0.0001295162,0.00001751196],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005949064,"about_ca_system_score_gemma":0.0001942987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001790128,"about_ca_topic_score_gemma":0.00003076362,"domain_scores_codex":[0.9986917,0.0002065294,0.0003748924,0.0003504395,0.000100752,0.0002756763],"domain_scores_gemma":[0.9993517,0.00003601043,0.0001363428,0.0003032143,0.00006010407,0.0001126045],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000125974,0.0002703562,0.9869238,0.00008479012,0.00003657254,0.0001560258,0.00002136709,0.00002322829,0.0007009272,0.0003193681,0.01119404,0.0001435882],"study_design_scores_gemma":[0.003584564,0.00045909,0.9753195,0.0000113295,0.0001442589,0.003624297,0.000107343,0.000003284539,0.004869735,0.0004511725,0.01098413,0.0004413128],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943306,0.003712573,0.0002950386,0.0001254164,0.0001566986,0.0001786599,0.00001230542,0.000008204244,0.001180488],"genre_scores_gemma":[0.9971411,0.001039969,0.001193756,0.0002273384,0.00006577662,0.00001809288,0.00004687338,0.00001755676,0.0002495522],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01160427,"threshold_uncertainty_score":0.5148442,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006603796926811807,"score_gpt":0.254786204279307,"score_spread":0.2481824073524952,"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."}}