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

• Autores principales: Tugce Bozkurt-Yozgatli (Autor), Davut Pehlivan (Autor), Richard A. Gibbs (Autor), Ugur Sezerman (Autor), Jennifer E. Posey (Autor), James R. Lupski (Autor), Zeynep Coban-Akdemir (Autor)
• Formato: Libro
• Publicado: BMC, 2024-04-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...