{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004378886,0.001442053,0.0006294382,0.001812711,0.0007911439,0.0005937981,0.0007278375,0.00193293,0.00155973],"category_scores_gemma":[0.002878977,0.0007606431,0.000502133,0.0008740961,0.001246857,0.0005151905,0.0009753323,0.0007684471,0.0002725256],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003818113,"about_ca_system_score_gemma":0.0003855134,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001650345,"about_ca_topic_score_gemma":0.001763147,"domain_scores_codex":[0.9989437,0.0001360232,0.0001619778,0.0003837268,0.0001943251,0.000180275],"domain_scores_gemma":[0.9986326,0.0004859843,0.0004404635,0.00008840258,0.00008533467,0.0002671888],"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":[0.0004423131,0.0003152163,0.3234195,0.0002167392,0.0001172036,0.6277783,0.002138302,0.0002897401,0.0367794,0.0003691638,0.0002825542,0.007851697],"study_design_scores_gemma":[0.00005995179,0.0004340575,0.1836988,0.000018038,0.00006437007,0.8118367,0.0003139954,0.0002405564,0.002539049,0.00007167111,0.0006998809,0.0000228108],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987702,0.0003111754,0.0003007427,0.00005792765,0.000009395822,0.000025102,0.00008408057,0.00001485214,0.0004264577],"genre_scores_gemma":[0.998863,0.0002050861,0.0005420697,0.00005286567,0.00003018182,0.00001712693,0.0000979884,0.000008770302,0.0001830132],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00193293,"threshold_uncertainty_score":0.00521785,"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."}}