Mosaicism in clinical genetics

Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet 43: 355 [1988]). In this Perspective, a paper in this spec...

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Detalles Bibliográficos
Autor principal: Mefford, Heather C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Perspective
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751420/
https://www.ncbi.nlm.nih.gov/pubmed/34887310
http://dx.doi.org/10.1101/mcs.a006162
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author Mefford, Heather C.
author_facet Mefford, Heather C.
author_sort Mefford, Heather C.
collection PubMed
description Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet 43: 355 [1988]). In this Perspective, a paper in this special issue on mosaicism from Cook et al. (Cold Spring Harb Mol Case Studies 7: a006125 [2021]) is discussed.
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spelling pubmed-87514202022-01-20 Mosaicism in clinical genetics Mefford, Heather C. Cold Spring Harb Mol Case Stud Perspective Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet 43: 355 [1988]). In this Perspective, a paper in this special issue on mosaicism from Cook et al. (Cold Spring Harb Mol Case Studies 7: a006125 [2021]) is discussed. Cold Spring Harbor Laboratory Press 2021-12 /pmc/articles/PMC8751420/ /pubmed/34887310 http://dx.doi.org/10.1101/mcs.a006162 Text en © 2021 Mefford; Published by Cold Spring Harbor Laboratory Press https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
spellingShingle Perspective
Mefford, Heather C.
Mosaicism in clinical genetics
title Mosaicism in clinical genetics
title_full Mosaicism in clinical genetics
title_fullStr Mosaicism in clinical genetics
title_full_unstemmed Mosaicism in clinical genetics
title_short Mosaicism in clinical genetics
title_sort mosaicism in clinical genetics
topic Perspective
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751420/
https://www.ncbi.nlm.nih.gov/pubmed/34887310
http://dx.doi.org/10.1101/mcs.a006162
work_keys_str_mv AT meffordheatherc mosaicisminclinicalgenetics

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