{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001597528,0.001169964,0.0004357334,0.0007927936,0.0003798786,0.0003996607,0.0004082768,0.001347222,0.001281082],"category_scores_gemma":[0.001661807,0.0003499288,0.0002442342,0.0003156418,0.001051428,0.0004124734,0.0009195117,0.0008937496,0.0002583047],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002687817,"about_ca_system_score_gemma":0.0003302352,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008422342,"about_ca_topic_score_gemma":0.001315568,"domain_scores_codex":[0.9997258,0.00003486682,0.00002623946,0.00008004771,0.00006453101,0.00006865065],"domain_scores_gemma":[0.9993398,0.0001851074,0.0002094317,0.00005059077,0.00002038729,0.0001946924],"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":[0.00009315696,0.00002343325,0.0324052,0.00006580215,0.00002641671,0.9277212,0.0003305258,0.0003498701,0.02901557,0.001345497,0.0005199324,0.008103415],"study_design_scores_gemma":[0.00001246475,0.00004404049,0.02181848,0.0000098216,0.00001115272,0.97304,0.00007323668,0.0002102784,0.00396807,0.000337088,0.0004657674,0.000009513713],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911807,0.000977929,0.003223269,0.0004688281,0.00003283366,0.0000402418,0.0002747134,0.0001258559,0.003675644],"genre_scores_gemma":[0.9976823,0.0003256635,0.001397745,0.00007507823,0.00005050648,0.00000998544,0.00008408652,0.00001621604,0.0003582901],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001347222,"threshold_uncertainty_score":0.004285634,"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."}}