{"id":"W4408377182","doi":"10.1111/pde.15904","title":"Neuroichthyosis With a De Novo Variant <scp>c.494C&gt;T</scp> in <scp><i>ELOVL1</i></scp> and Severe Pruritus Relieved by Dupilumab","year":2025,"lang":"en","type":"article","venue":"Pediatric Dermatology","topic":"Dermatology and Skin Diseases","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Dupilumab; Medicine; Monoclonal antibody; Monoclonal; Quality of life (healthcare); Dermatology; Immunology; Antibody; Atopic dermatitis","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":[0.0001404382,0.0008078395,0.000418283,0.0006018531,0.0007488439,0.0005744321,0.000435224,0.001059633,0.001557103],"category_scores_gemma":[0.0007173533,0.0002594094,0.0003368825,0.0004938829,0.0007838125,0.0004269881,0.0004856576,0.0009937737,0.0003774612],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005764749,"about_ca_system_score_gemma":0.0004616443,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001982829,"about_ca_topic_score_gemma":0.004124844,"domain_scores_codex":[0.9997249,0.00002713104,0.00002601234,0.00008016171,0.00005040993,0.00009138581],"domain_scores_gemma":[0.999454,0.0001366417,0.0001964676,0.00003587231,0.00003402572,0.0001429954],"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":[0.00004080712,0.00003330329,0.01193662,0.0000307693,0.00001480904,0.9758138,0.0001592362,0.0001058338,0.008594362,0.0002681396,0.0002851295,0.002717166],"study_design_scores_gemma":[0.000007478383,0.0000474183,0.008679327,0.000006001456,0.00001265455,0.9885284,0.00005144268,0.000157214,0.00176224,0.00006969526,0.0006724788,0.000005512647],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9870157,0.001193803,0.001683577,0.0006884853,0.00008619647,0.00004876194,0.0001918538,0.000104502,0.00898705],"genre_scores_gemma":[0.9983876,0.0001941208,0.0004445074,0.0001504352,0.00004156594,0.0000045545,0.00004183226,0.00001258783,0.0007228998],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001982829,"threshold_uncertainty_score":0.005209029,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004196545249508987,"score_gpt":0.2219620121358516,"score_spread":0.2177654668863426,"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."}}