{"id":"W4410059186","doi":"10.1177/12034754251336241","title":"Clinical and Genetic Characterization of 8 Patients with Syndromic Patterned Cutaneous Hypopigmentation: A Descriptive Study","year":2025,"lang":"en","type":"article","venue":"Journal of Cutaneous Medicine and Surgery","topic":"melanin and skin pigmentation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Dermatology Foundation","keywords":"Medicine; Genodermatosis; Hypopigmentation; Exome sequencing; Comparative genomic hybridization; Dermatology; Trisomy; Pathology; Pathological; Chromosome; Genetics; Mutation","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":[0.0001927565,0.000403959,0.0003655935,0.001128775,0.0005571255,0.0003801695,0.0002563122,0.0003633151,0.002019652],"category_scores_gemma":[0.0007114656,0.0003089657,0.0002590535,0.0005599252,0.0003953173,0.0002685832,0.0004813661,0.0002308019,0.0003538241],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002233143,"about_ca_system_score_gemma":0.0002734733,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008042514,"about_ca_topic_score_gemma":0.0007364419,"domain_scores_codex":[0.9997548,0.00002944907,0.00003731398,0.00009662547,0.00003369633,0.00004799071],"domain_scores_gemma":[0.9996099,0.00008659832,0.00009769903,0.00004074554,0.00004299702,0.0001220557],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002883103,0.0002691133,0.9466842,0.00003483775,0.00003243358,0.04194343,0.0006771255,0.00007674484,0.004279761,0.00007236622,0.0001862373,0.005455439],"study_design_scores_gemma":[0.0000599813,0.001117184,0.7828948,0.00002085177,0.00005985775,0.2117284,0.001317041,0.0004236767,0.001195202,0.0001161307,0.001036806,0.00003007607],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99951,0.00006030026,0.0001032722,0.000007617017,0.000001241138,0.0000143019,0.00006818483,0.000002549484,0.0002326291],"genre_scores_gemma":[0.999496,0.00005494646,0.0001339066,0.00001546029,0.000004989297,0.00001281785,0.0001430617,0.000002333605,0.0001364011],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002019652,"threshold_uncertainty_score":0.006756365,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01465114715660397,"score_gpt":0.2738726315633431,"score_spread":0.2592214844067391,"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."}}