{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003519201,0.000117288,0.0003652745,0.00005156535,0.00003745862,0.000005658938,0.0004422082,0.0001372049,0.0000515205],"category_scores_gemma":[0.001653167,0.0000741265,0.0001459239,0.00005016071,0.0008747932,0.00001138232,0.0001462503,0.0002611524,0.000001026371],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001032612,"about_ca_system_score_gemma":0.00005328511,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000727225,"about_ca_topic_score_gemma":0.000005389147,"domain_scores_codex":[0.9983267,0.0003158881,0.0008507606,0.0001734442,0.0001749934,0.000158188],"domain_scores_gemma":[0.9983234,0.0001032999,0.0007018488,0.0002721215,0.0004950482,0.0001043143],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001062362,0.001157245,0.05840195,0.000004660623,0.000163063,0.000003000627,0.0003078263,0.00001747276,0.9253503,0.001548521,0.0001111386,0.01187244],"study_design_scores_gemma":[0.003464371,0.001182094,0.6291583,0.000005909203,0.0001397447,0.00007779048,0.0007875995,0.00003046571,0.358643,0.00142778,0.004891377,0.0001914989],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997562,0.0008945316,0.0003926919,0.0001950328,0.000811335,0.0000763741,0.00001483221,0.000001715675,0.00005151367],"genre_scores_gemma":[0.9978665,0.0007869123,0.0006973503,0.0004934382,0.0001284258,0.000001396427,0.00001644688,0.000006248682,0.000003317948],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5707564,"threshold_uncertainty_score":0.3223212,"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."}}