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

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

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...

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Bibliographic Details
Main Authors: Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban-Akdemir
Format: Article
Language:English
Published: BMC 2024-04-01
Series:BMC Medical Genomics
Subjects:
Exome sequencing
Runs-of-homozygosity
Multilocus pathogenic variation
Neurodevelopmental disorders
Online Access:https://doi.org/10.1186/s12920-024-01852-4

Internet

https://doi.org/10.1186/s12920-024-01852-4

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