Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

• 主要な著者: Tugce Bozkurt-Yozgatli (著者), Davut Pehlivan (著者), Richard A. Gibbs (著者), Ugur Sezerman (著者), Jennifer E. Posey (著者), James R. Lupski (著者), Zeynep Coban-Akdemir (著者)
• フォーマット: 図書
• 出版事項: BMC, 2024-04-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Multilocus pathogenic variants (MPVs) are genetic changes that affect multiple gene loci or regions of the genome, collectively leading to multiple molecular diagnoses. MPVs may also contribute to intrafamilial phenotypic variability between affected individuals within a nuclear...