Clinical-molecular profiling of atypical patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction.
作者信息
Solis Gonzalo P, Danti Federica Rachele, Larasati Yonika A, Graziola Federica, Croci Carolina, Osanni Elisa, Koval Alexey, Zorzi Giovanna, Katanaev Vladimir L
机构信息
Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva 1211, Switzerland.
Child Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano 20133, Italy.
出版信息
Genes Dis. 2025 Jan 9;12(5):101522. doi: 10.1016/j.gendis.2025.101522. eCollection 2025 Sep.
Abstract
摘要
Zotero 插件