{"id":"W4415879836","doi":"10.1002/ajmg.a.64295","title":"Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia— <i>FGFR2</i> ‐Related","year":2025,"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":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital; McMaster University; University of Manitoba","funders":"","keywords":"Craniofacial; Presentation (obstetrics); Dysplasia; Bone development; Gastrostomy; Bronchopulmonary dysplasia; Craniofacial abnormality","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":[0.000110394,0.0009004994,0.0006579863,0.0007850833,0.001033768,0.0003377236,0.0006005032,0.001650966,0.00205594],"category_scores_gemma":[0.0007367255,0.0002489713,0.0003348754,0.0004681576,0.0004623016,0.0006439642,0.0008677904,0.001262771,0.0005575688],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003623021,"about_ca_system_score_gemma":0.0004306948,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002986731,"about_ca_topic_score_gemma":0.00344242,"domain_scores_codex":[0.9998461,0.00001622798,0.00001390074,0.00006169755,0.00002623229,0.00003574933],"domain_scores_gemma":[0.9996436,0.00003973664,0.00006691272,0.00001024587,0.00003230979,0.0002072295],"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":[0.00005723282,0.00004455418,0.03587905,0.00003590129,0.00001502995,0.9541285,0.0003406154,0.0001582744,0.00438741,0.0003219571,0.001905867,0.002725668],"study_design_scores_gemma":[0.000004457163,0.00008731626,0.02363617,0.0000285059,0.00001134382,0.9742991,0.0001772545,0.0001513461,0.0003752304,0.0001486513,0.001061403,0.00001923862],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9729156,0.003039772,0.002369099,0.004052892,0.0002986203,0.0001245197,0.001104697,0.0001893097,0.01590531],"genre_scores_gemma":[0.9909633,0.001383126,0.001292033,0.00132028,0.0002014338,0.00003367841,0.0004476465,0.00003503785,0.004323497],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002986731,"threshold_uncertainty_score":0.00687784,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01904934939911655,"score_gpt":0.3585645234666112,"score_spread":0.3395151740674947,"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."}}