{"id":"W4393111338","doi":"10.1002/pd.6553","title":"Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of <i>RYR1</i>‐ and <i>NEB‐</i>related congenital myopathies","year":2024,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Total (Canada); University of Calgary","funders":"","keywords":"Arthrogryposis; Congenital myopathy; Hydrops fetalis; Myopathy; Genetic counseling; Exome sequencing; Medicine; Cystic hygroma; Fetus; Genetic heterogeneity; Prenatal diagnosis; Hypotonia; Genetic testing; Pathology; Pediatrics; Muscle biopsy; Genetics; Biology; Phenotype; Pregnancy; Anatomy; Internal medicine; Biopsy","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":[0.0001519555,0.0002141023,0.0003369804,0.0001873692,0.0001207428,0.0000807874,0.00006291483,0.0001194202,0.00008196619],"category_scores_gemma":[0.0002654081,0.0001911694,0.00008399167,0.0002228789,0.0003204181,0.0001888644,0.0002496143,0.0002778661,0.00001022266],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007280524,"about_ca_system_score_gemma":0.00005162887,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007794941,"about_ca_topic_score_gemma":0.00003906952,"domain_scores_codex":[0.998522,0.00009101949,0.0002941538,0.0004666089,0.0003071731,0.0003190211],"domain_scores_gemma":[0.9989311,0.0005402158,0.00003762508,0.0001881729,0.00006600685,0.0002369226],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000125464,0.0003720204,0.9753059,0.003137659,0.0006613484,0.001743651,0.001596453,0.000003882064,0.004154959,0.0001849638,0.00106037,0.01165331],"study_design_scores_gemma":[0.004329034,0.0007161718,0.9738599,0.0007056431,0.0006795867,0.004752861,0.0009015026,0.003734024,0.008311654,0.0002417303,0.00135234,0.0004155512],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.980481,0.01739278,0.00004523053,0.0003915516,0.0001150687,0.0007643836,0.0004508623,0.00006991847,0.0002892132],"genre_scores_gemma":[0.9952831,0.004075895,0.0001013637,0.0000419651,0.0000202326,0.000142016,0.0001247412,0.00004102735,0.0001696206],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01480214,"threshold_uncertainty_score":0.7795661,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00992530615074477,"score_gpt":0.2607086066437809,"score_spread":0.2507833004930362,"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."}}