{"id":"W2987073698","doi":"10.1002/ajmg.a.61403","title":"Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Vascular Malformations and Hemangiomas","field":"Medicine","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Western University; B.C. Women's Hospital & Health Centre; London Health Sciences Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke","keywords":"Polymicrogyria; Megalencephaly; Internal medicine; Endocrinology; Medicine; Growth hormone deficiency; Hypoglycemia; Growth hormone; Insulin; Hormone; Epilepsy; Pathology; Psychiatry","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":[0.001382635,0.000112642,0.0003942199,0.0004278972,0.00003480527,0.0000210997,0.0001441433,0.00008513008,0.00006957904],"category_scores_gemma":[0.0002630095,0.00008930651,0.00006843675,0.0008370008,0.00007276083,0.0002963785,0.00002144443,0.0004301265,0.00001321209],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002209197,"about_ca_system_score_gemma":0.0003818116,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005788259,"about_ca_topic_score_gemma":0.00004048235,"domain_scores_codex":[0.9975157,0.0001139461,0.0006971173,0.0001171316,0.001298141,0.0002579264],"domain_scores_gemma":[0.9987534,0.0001004944,0.0005648873,0.0001383065,0.0002272264,0.0002157354],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002708875,0.00112803,0.9382251,0.0001359012,0.0001514052,0.0004152689,0.006463038,0.001615237,0.001250669,0.0002763505,0.0001741346,0.04989397],"study_design_scores_gemma":[0.003989241,0.004590886,0.9712071,0.0006325235,0.00009024767,0.002071911,0.006279121,0.01006403,0.0003405188,0.0001214667,0.0003882,0.0002247679],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964401,0.0003723137,0.0008300996,0.001844363,0.00005937123,0.0001890823,0.000001210962,0.000007490364,0.0002559823],"genre_scores_gemma":[0.9960926,0.0004478489,0.003144603,0.0002242734,0.00004290395,0.000006198154,0.00001477022,0.00001340905,0.00001336574],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0496692,"threshold_uncertainty_score":0.3641814,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007487063890810526,"score_gpt":0.2567586507226361,"score_spread":0.2492715868318256,"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."}}