{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009334428,0.0003104959,0.001123598,0.00004818859,0.00006302326,0.00002106153,0.0001464687,0.0003466676,0.000001498364],"category_scores_gemma":[0.002069592,0.0002097624,0.0002805694,0.0002628777,0.000217713,0.000001682875,0.0003430279,0.0003611649,0.000001571059],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001658018,"about_ca_system_score_gemma":0.000174679,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002372509,"about_ca_topic_score_gemma":0.00002922013,"domain_scores_codex":[0.997056,0.0007034393,0.00131582,0.0006019428,0.0001401757,0.0001826149],"domain_scores_gemma":[0.9984358,0.0002993968,0.0004494589,0.0005566291,0.0001460799,0.0001126173],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001680162,0.0000886831,0.0002419518,0.01590766,0.0001291274,0.005711046,0.00009266831,0.00000266561,0.00003455462,0.000002290263,0.0003123763,0.9774602],"study_design_scores_gemma":[0.0008551895,0.001880917,0.000423997,0.101276,0.001456161,0.08267181,0.00002031347,0.000004898352,0.0001413984,0.00002806102,0.8104777,0.0007634838],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.04808198,0.9500834,0.00001027992,0.00009137694,0.0002004367,0.001386382,0.0001167628,0.000003714937,0.00002565598],"genre_scores_gemma":[0.002650727,0.9953488,0.001025134,0.0004246207,0.000276387,0.0001140588,0.00009936816,0.00002940922,0.00003153572],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9766967,"threshold_uncertainty_score":0.855386,"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."}}