{"id":"W1547914286","doi":"10.1111/j.1399-0004.2005.00498.x","title":"Holoprosencephaly and cleidocranial dysplasia in a patient due to two position‐effect mutations: case report and review of the literature","year":2005,"lang":"en","type":"review","venue":"Clinical Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Memorial University of Newfoundland","funders":"Canadian Institutes of Health Research; Ontario Genomics Institute; Genome Canada; Howard Hughes Medical Institute","keywords":"Cleidocranial Dysplasia; Holoprosencephaly; Medicine; Position (finance); Dysplasia; Mutation; Genetics; Dental anomalies; Osteochondrodysplasia; Orthodontics; Dermatology; Pediatrics; Anatomy; Biology; Pathology; Pregnancy; Gene; Fetus","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":[0.0003953226,0.001879356,0.002232187,0.004355106,0.0009134331,0.001666906,0.002048907,0.004097275,0.002835873],"category_scores_gemma":[0.001489782,0.0007831021,0.001114765,0.00336719,0.001490109,0.002118726,0.0009594666,0.001583875,0.00161112],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006629709,"about_ca_system_score_gemma":0.0005006412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001013639,"about_ca_topic_score_gemma":0.0011731,"domain_scores_codex":[0.9991944,0.00006029019,0.0002414318,0.0002400262,0.0001315129,0.0001322655],"domain_scores_gemma":[0.9989195,0.0003950671,0.0003305495,0.00005477898,0.00009537009,0.0002047871],"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":[0.00004837658,0.00009281757,0.003864521,0.001241149,0.0001079796,0.9707219,0.0002899931,0.000110936,0.001640773,0.0001813595,0.002609642,0.01909065],"study_design_scores_gemma":[0.00001193163,0.00004457769,0.005287884,0.00022167,0.0001315809,0.9855686,0.0001881153,0.0001102353,0.0003170066,0.0001937438,0.007895748,0.00002892394],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.2950066,0.6734428,0.00800832,0.004266141,0.00333902,0.0004436108,0.0007027432,0.0005272577,0.01426354],"genre_scores_gemma":[0.5832075,0.3868483,0.006397283,0.00477457,0.009549513,0.0002013074,0.001094656,0.0001051763,0.007821635],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004355106,"threshold_uncertainty_score":0.009486914,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03206650774849152,"score_gpt":0.4007984245869941,"score_spread":0.3687319168385025,"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."}}