{"id":"W2942470711","doi":"10.1089/thy.2018.0461","title":"Wide Spectrum of <i>DUOX2</i> Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism","year":2019,"lang":"en","type":"article","venue":"Thyroid","topic":"Thyroid Disorders and Treatments","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire de Sherbrooke; Centre hospitalier de l'Université Laval; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Compound heterozygosity; Medicine; Respiratory distress; Levothyroxine; Pediatrics; Goiter; Euthyroid; Heterozygote advantage; Internal medicine; Newborn screening; Exome sequencing; Endocrinology; Thyroid; Allele; Mutation; Surgery; Genetics; 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":[0.0001976754,0.0008584984,0.0004818455,0.000592445,0.0004417245,0.0002795207,0.0002301613,0.0004798858,0.001151416],"category_scores_gemma":[0.0008870676,0.0002454114,0.0001863458,0.0004503956,0.0005458463,0.0002552891,0.0007644591,0.0003705226,0.0002279883],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001888905,"about_ca_system_score_gemma":0.0001592168,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004449477,"about_ca_topic_score_gemma":0.0005113737,"domain_scores_codex":[0.9997557,0.00003426782,0.0000467808,0.00006291287,0.00003469604,0.0000656081],"domain_scores_gemma":[0.999503,0.0001661,0.0001303393,0.00002675414,0.00003176193,0.000141931],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0007926925,0.0001346567,0.4652107,0.0002261082,0.00008114175,0.4289304,0.002715189,0.000404865,0.05387722,0.0008270975,0.0009924099,0.04580748],"study_design_scores_gemma":[0.00003528302,0.0006543393,0.2112601,0.00003978164,0.00006158775,0.7794836,0.0006686394,0.0002373572,0.00488759,0.0004625509,0.00218484,0.00002432181],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962884,0.0006711039,0.0008771155,0.00009042338,0.000005518287,0.00001320554,0.00009728677,0.00004712029,0.001909928],"genre_scores_gemma":[0.9991915,0.0001803646,0.0003027534,0.00005357265,0.000008898503,0.000005038564,0.00006575556,0.000009272289,0.0001828902],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001151416,"threshold_uncertainty_score":0.003851831,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008494403987309143,"score_gpt":0.2422257909876495,"score_spread":0.2337313870003404,"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."}}