{"id":"W2128186063","doi":"10.1210/jc.2010-1024","title":"Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients","year":2010,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Sexual Differentiation and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":213,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Micropenis; Androgen insensitivity syndrome; Dihydrotestosterone; Compound heterozygosity; Disorders of sex development; Consanguinity; Hypospadias; Exon; Genetics; Biology; Phenotype; Medicine; Internal medicine; Androgen; Endocrinology; Androgen receptor; Gene","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":[0.0006353792,0.0007027913,0.0003393586,0.0008415679,0.0005865649,0.0006124055,0.0002858088,0.0004040104,0.001160626],"category_scores_gemma":[0.001581016,0.0002957427,0.0003699287,0.0006086262,0.0005996827,0.0004681386,0.0006801122,0.0002774992,0.0003388402],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003985927,"about_ca_system_score_gemma":0.0002669755,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001579824,"about_ca_topic_score_gemma":0.001196623,"domain_scores_codex":[0.9993787,0.0001499046,0.00007964405,0.0002060334,0.00006051348,0.0001250744],"domain_scores_gemma":[0.9993677,0.000173709,0.0001519417,0.00007146476,0.00004173857,0.0001936129],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002020544,0.0001493835,0.9669867,0.00003568626,0.0000816056,0.01175765,0.001934219,0.0002751805,0.002583263,0.00009262227,0.0002846585,0.01561693],"study_design_scores_gemma":[0.00003776708,0.001053765,0.9436079,0.00004601132,0.0001158988,0.05008925,0.001558579,0.0003448504,0.001338413,0.00009307493,0.001678202,0.00003639105],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987961,0.000457876,0.000226205,0.00002062791,0.000003210612,0.00000873151,0.00004749226,0.000005102569,0.0004345425],"genre_scores_gemma":[0.9992509,0.0003421995,0.0001544881,0.0000262539,0.00000966342,0.000007806498,0.00009724127,0.000003197319,0.0001081028],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001579824,"threshold_uncertainty_score":0.003882647,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03693738236876138,"score_gpt":0.3716204171046332,"score_spread":0.3346830347358719,"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."}}