{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001498666,0.0009055234,0.0008414569,0.001190031,0.001410986,0.0006269902,0.0003840172,0.001570955,0.002291078],"category_scores_gemma":[0.001137951,0.0006443899,0.0004002868,0.0007225209,0.0008934129,0.000799996,0.0007745683,0.001363311,0.0005813523],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003967147,"about_ca_system_score_gemma":0.000405356,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001745458,"about_ca_topic_score_gemma":0.002026783,"domain_scores_codex":[0.9997806,0.00002655726,0.00001986234,0.00005853018,0.0000471442,0.00006722528],"domain_scores_gemma":[0.9993888,0.0001802122,0.0001224112,0.00002257338,0.00003477572,0.0002512247],"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":[0.00005443233,0.00004586241,0.01573555,0.00001972508,0.000008251492,0.9778862,0.0003379679,0.00005900757,0.003635164,0.0001386958,0.0003660785,0.001713105],"study_design_scores_gemma":[0.00002080331,0.0001940623,0.0242549,0.00001166761,0.00001983674,0.9728168,0.00021333,0.0002035723,0.0009756536,0.0001002279,0.001177473,0.00001163793],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923584,0.000868906,0.0008129064,0.001253546,0.00009965652,0.00004593182,0.000183921,0.0001164962,0.004260241],"genre_scores_gemma":[0.9973643,0.0006714921,0.0004785143,0.0002960452,0.0001056241,0.00001672425,0.00008539324,0.00002457768,0.0009573266],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002291078,"threshold_uncertainty_score":0.007664442,"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."}}