{"id":"W2083745370","doi":"10.1002/ajmg.a.36246","title":"Hand and fibrillin‐1 deposition abnormalities in Loeys–Dietz syndrome—expanding the clinical spectrum","year":2013,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Medicine; Hypertelorism; Brachydactyly; Anatomy; Arthrogryposis multiplex congenita; Camptodactyly; Arthrogryposis; Pathology; Internal medicine; Short stature","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":[0.0002650028,0.0008338717,0.0004206787,0.001789427,0.0004092611,0.0004097567,0.0003128177,0.0008931933,0.001520251],"category_scores_gemma":[0.001151387,0.0003039458,0.0002626257,0.0006893175,0.0007603959,0.0005000207,0.0006574782,0.0004599564,0.0002950047],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002193339,"about_ca_system_score_gemma":0.0002669593,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00124518,"about_ca_topic_score_gemma":0.00138205,"domain_scores_codex":[0.9997355,0.00004049617,0.00004599775,0.00007120489,0.00004915717,0.00005762686],"domain_scores_gemma":[0.9996246,0.0001581395,0.00006978522,0.00002283388,0.00003962603,0.00008487667],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0003773452,0.00009420209,0.1704631,0.0001720867,0.00005803279,0.7406938,0.0006963842,0.0004899164,0.0490422,0.000654438,0.0009604147,0.03629798],"study_design_scores_gemma":[0.00004789546,0.000147418,0.1116065,0.00006899263,0.00007677272,0.8808554,0.000256046,0.0006398981,0.003770135,0.0006726789,0.001837279,0.00002093587],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9901792,0.002490972,0.001041844,0.0004810464,0.00003034229,0.00003213494,0.0001257863,0.00007736434,0.005541367],"genre_scores_gemma":[0.9974048,0.001122358,0.0008445643,0.0001472785,0.0000606817,0.000007520118,0.00007015021,0.000008898175,0.0003338379],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001789427,"threshold_uncertainty_score":0.005085707,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02026961891838245,"score_gpt":0.3449322881685309,"score_spread":0.3246626692501484,"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."}}