De novo mutations, genetic mosaicism and human disease

De novo mutations, genetic mosaicism and human disease

Mosaicism—the existence of genetically distinct populations of cells in a particular organism—is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations, epigenetic alterations of DNA, and chromosomal abnormalities. Neurodevelopmental or neuropsychiatric diseases, includ...

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Bibliographic Details
Main Authors: Mohiuddin Mohiuddin, R. Frank Kooy, Christopher E. Pearson
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Genetics
Subjects:
de novo mutation
mosaicism
timing of mutation
repeat instability
germline mutation
somatic mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.983668/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.983668/full

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