{"id":"W2021251121","doi":"10.1210/jc.2003-030089","title":"Reversible Metaphyseal Dysplasia, a Novel Bone Phenotype, in Two Unrelated Children with Autoimmunepolyendocrinopathy-Candidiasis-Ectodermal Dystrophy: Clinical and Molecular Studies","year":2003,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Adrenal Hormones and Disorders","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"","keywords":"Hypohidrotic ectodermal dysplasia; Medicine; Dystrophy; Pathology; Ossification; Endochondral ossification; Histopathology; Ectodermal dysplasia; Autoimmune regulator; Dyskeratosis congenita; Cartilage; Biology; Anatomy; Genetics; Autoimmunity; Dermatology; Disease; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.002204509,0.0004274432,0.002475472,0.0003080429,0.0001384494,0.00001826302,0.0002946572,0.0001561336,0.0000260803],"category_scores_gemma":[0.001922716,0.0002509088,0.0004963687,0.0004882329,0.001502012,0.0002260367,0.0001393357,0.002250386,0.000008982895],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002189659,"about_ca_system_score_gemma":0.0004456885,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001289491,"about_ca_topic_score_gemma":0.00003233675,"domain_scores_codex":[0.9944791,0.00121852,0.002620331,0.0004187348,0.0005116734,0.0007516021],"domain_scores_gemma":[0.9965562,0.001105307,0.001120868,0.0005138377,0.0003624778,0.0003412839],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.02677766,0.006512932,0.8664331,0.0001226716,0.01954802,0.006273351,0.00131308,0.000851389,0.004951689,0.03214932,0.0007625662,0.03430423],"study_design_scores_gemma":[0.04087648,0.002093774,0.9349848,0.0001547182,0.004849288,0.01128984,0.001088614,0.00005742416,0.0007654871,0.001409138,0.002030336,0.0004000808],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9411984,0.05481992,0.0004023629,0.002312266,0.000466614,0.0004379128,0.000004384386,0.00002395237,0.0003342057],"genre_scores_gemma":[0.9804232,0.01441068,0.003362907,0.001429236,0.0002527365,0.000006232384,0.000002568801,0.00004611976,0.00006628731],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06855172,"threshold_uncertainty_score":0.9999943,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03996547388035073,"score_gpt":0.3743850681449426,"score_spread":0.3344195942645919,"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."}}