{"id":"W4414001051","doi":"10.1002/pd.6880","title":"A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel <i>PORCN</i> Variant","year":2025,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Total (Canada); University of Calgary","funders":"","keywords":"Coloboma; Medicine; Dysostosis; Hypoplasia; Renal agenesis; Agenesis; Foot (prosody); Anatomy; Ectrodactyly; Dermatology; Congenital disease; Surgery; Kidney; Internal medicine; Ectodermal dysplasia","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001120143,0.0002315302,0.0003198318,0.0001115714,0.00009481415,0.00003405074,0.0001782007,0.0001463443,0.00002810043],"category_scores_gemma":[0.0001497184,0.00020374,0.00008213778,0.0002023892,0.0001858515,0.00001269282,0.0002742547,0.00006179986,0.00000221584],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000135299,"about_ca_system_score_gemma":0.0001582229,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001553862,"about_ca_topic_score_gemma":0.0001792869,"domain_scores_codex":[0.998742,0.00003709658,0.0004025651,0.0003995742,0.0001508497,0.0002679136],"domain_scores_gemma":[0.9991772,0.00005540261,0.0001389237,0.0003160409,0.0001532429,0.0001591836],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.01713596,0.01112214,0.2924951,0.01702982,0.005614398,0.007466421,0.004188523,0.001675695,0.5197809,0.003811218,0.0347651,0.08491476],"study_design_scores_gemma":[0.002313604,0.00067838,0.2803756,0.0005139934,0.0002555359,0.001679136,0.0001099995,0.0001522142,0.7125596,0.00002597375,0.0009938079,0.0003421264],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924131,0.0006209905,0.00499485,0.0001471537,0.00006587383,0.00050263,0.001134015,0.00000790655,0.0001134843],"genre_scores_gemma":[0.9972056,0.00008033513,0.001931548,0.0001937557,0.00004263089,0.0002063866,0.0002424838,0.00001827259,0.00007896542],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1927788,"threshold_uncertainty_score":0.8308275,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00794039174094086,"score_gpt":0.2395106336913898,"score_spread":0.2315702419504489,"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."}}