{"id":"W2030648535","doi":"10.1007/s00431-003-1380-y","title":"Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome","year":2004,"lang":"en","type":"article","venue":"European Journal of Pediatrics","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":10,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Centre for Addiction and Mental Health; SickKids Foundation; Hospital for Sick Children","funders":"Howard Hughes Medical Institute","keywords":"Gonadal dysgenesis; Microcephaly; Short stature; Endocrinology; Testis determining factor; Medicine; Karyotype; Internal medicine; Germline mosaicism; hirsutism; Genetics; Biology; Y chromosome; Chromosome; Germline; Gene; Pediatrics; Polycystic ovary","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":[0.0001789213,0.0009714137,0.0004186873,0.002154074,0.0003958302,0.0004009926,0.0004622736,0.0005478055,0.002441872],"category_scores_gemma":[0.00118924,0.0002640251,0.0002144227,0.001234714,0.0008459553,0.0003134921,0.0005158849,0.0003894486,0.0002174513],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002416773,"about_ca_system_score_gemma":0.000382704,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002252115,"about_ca_topic_score_gemma":0.002835283,"domain_scores_codex":[0.9997389,0.00002938668,0.00003341457,0.00005985503,0.00007925489,0.0000592928],"domain_scores_gemma":[0.9994982,0.0001524791,0.0001966906,0.00003338831,0.00003288983,0.00008627641],"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":[0.0008393396,0.000124224,0.2577083,0.0002049065,0.0001688623,0.5105061,0.001255869,0.001239672,0.1864277,0.002768851,0.0009276232,0.03782843],"study_design_scores_gemma":[0.00003683881,0.0001492393,0.3920854,0.00002541702,0.0001178868,0.5909809,0.000354763,0.00116971,0.01294994,0.000904205,0.00119511,0.00003060207],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940891,0.0005173329,0.0005089422,0.0001294905,0.000008686169,0.00001765754,0.000216551,0.00006470973,0.004447567],"genre_scores_gemma":[0.9982141,0.0002410322,0.0006637836,0.00002734965,0.00001724622,0.000007827733,0.0001071622,0.00001504137,0.0007063699],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002441872,"threshold_uncertainty_score":0.008168936,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01477859326737006,"score_gpt":0.2237813151952306,"score_spread":0.2090027219278605,"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."}}