{"id":"W2038718744","doi":"10.1002/ajmg.1320370613","title":"Overlap between Rubinstein-Taybi and Saethre-Chotzen syndromes: A case report","year":2005,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; Alberta Children's Hospital","funders":"Medical Research Council Canada","keywords":"Rubinstein–Taybi syndrome; Medicine; Craniosynostoses; Pediatrics; Dermatology; Surgery; Craniosynostosis","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0006410369,0.002166409,0.001246038,0.002572566,0.002983386,0.001653911,0.001230234,0.003763852,0.002587994],"category_scores_gemma":[0.005215695,0.001413729,0.001086101,0.001896471,0.002223562,0.002063994,0.002509003,0.002766535,0.00112613],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008464149,"about_ca_system_score_gemma":0.0007271037,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001924028,"about_ca_topic_score_gemma":0.001899978,"domain_scores_codex":[0.9987974,0.0001676185,0.0001585611,0.0003113199,0.0001620705,0.00040302],"domain_scores_gemma":[0.9963452,0.001265416,0.001143859,0.0004509649,0.0001591903,0.000635372],"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":[0.00003851327,0.00005790101,0.02468075,0.00001622562,0.00001649297,0.9721244,0.0002829919,0.00007482735,0.0006191113,0.0001844868,0.0001697586,0.001734515],"study_design_scores_gemma":[0.000006994086,0.000035344,0.003147373,0.000002905327,0.000009642067,0.9962359,0.0000642792,0.00006475535,0.0001395964,0.00006757752,0.000219483,0.000006045233],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9895927,0.002792207,0.001484561,0.0005818715,0.00007979432,0.00005006714,0.00007489438,0.0001305912,0.005213414],"genre_scores_gemma":[0.9965861,0.0008630603,0.0008809786,0.0002129215,0.000337212,0.0000279293,0.00008613963,0.00002066103,0.0009849842],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003763852,"threshold_uncertainty_score":0.008657753,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01153085277001489,"score_gpt":0.285617296069674,"score_spread":0.2740864432996591,"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."}}