Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.
作者信息
Kiesel Ann-Sophie, Laugwitz Lucia, Buchert Rebecca, Grimmel Mona, Baumann Sarah, Sturm Marc, Reich Selina, Pauly Martje G, Brüggemann Norbert, Münchau Alexander, Oleksiuk Olga, Synofzik Matthis, Haack Tobias B, Peralta Susana
机构信息
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany.
出版信息
Brain. 2025 Apr 3;148(4):e24-e28. doi: 10.1093/brain/awae402.
Abstract
摘要
Zotero 插件