{"id":"W1601842294","doi":"10.1034/j.1399-0004.2000.570510.x","title":"Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and <i>SHH</i> and <i>HLXB9</i> haploinsufficiency","year":2000,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Hospital for Sick Children; Hamilton Health Sciences","funders":"","keywords":"Holoprosencephaly; Haploinsufficiency; Biology; Medicine; Abnormality; Pathology; Anatomy; Genetics; Fetus; Phenotype; Pregnancy; Gene","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":[0.0002347333,0.0009540616,0.000469377,0.001101607,0.0005180126,0.0003092604,0.0003199665,0.001174011,0.0007705509],"category_scores_gemma":[0.00133378,0.0004897967,0.0002502588,0.0003323409,0.0009708427,0.0003235117,0.0004986977,0.0009404074,0.0001636523],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002369457,"about_ca_system_score_gemma":0.0001954422,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008796766,"about_ca_topic_score_gemma":0.001340035,"domain_scores_codex":[0.9997316,0.00004706319,0.00003078489,0.00005287149,0.00006875989,0.00006894513],"domain_scores_gemma":[0.9996866,0.0001107432,0.00008308813,0.00001635143,0.00001879704,0.00008440648],"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":[0.0001041878,0.00006453708,0.01792997,0.00004903616,0.00001389596,0.965893,0.0003726609,0.00007179796,0.01114572,0.00023338,0.0001721036,0.003949722],"study_design_scores_gemma":[0.00002435721,0.0003281328,0.03944213,0.00001653527,0.00006342996,0.9536289,0.0001375753,0.0001981348,0.00519444,0.0001637643,0.0007924206,0.00001020973],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971735,0.0007821043,0.0004925682,0.0001782404,0.00003380104,0.00001566862,0.00004532448,0.00003487875,0.001243862],"genre_scores_gemma":[0.9976744,0.0008590817,0.000730916,0.00008596684,0.0000745929,0.0000144265,0.00006724616,0.000009727779,0.0004837026],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001174011,"threshold_uncertainty_score":0.002577722,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02319615830135419,"score_gpt":0.3042919798135038,"score_spread":0.2810958215121496,"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."}}