Mosaicism and the taxonomy of human disease

Two papers in this special issue of Cold Spring Harbor Molecular Case Studies on Mosaicism throw light on an interesting conundrum in mosaic disorders. This conundrum centers on thresholds for the definition of mosaic disorders and how to reconcile the incredible inter- and intrapatient variability...

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Detalles Bibliográficos
Autor principal: Biesecker, Leslie G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Commentary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751412/
https://www.ncbi.nlm.nih.gov/pubmed/34887311
http://dx.doi.org/10.1101/mcs.a006163
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author Biesecker, Leslie G.
author_facet Biesecker, Leslie G.
author_sort Biesecker, Leslie G.
collection PubMed
description Two papers in this special issue of Cold Spring Harbor Molecular Case Studies on Mosaicism throw light on an interesting conundrum in mosaic disorders. This conundrum centers on thresholds for the definition of mosaic disorders and how to reconcile the incredible inter- and intrapatient variability of mosaic disorders with the clinical imperative to have clear and distinct categorical diagnoses.
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spelling pubmed-87514122022-01-20 Mosaicism and the taxonomy of human disease Biesecker, Leslie G. Cold Spring Harb Mol Case Stud Commentary Two papers in this special issue of Cold Spring Harbor Molecular Case Studies on Mosaicism throw light on an interesting conundrum in mosaic disorders. This conundrum centers on thresholds for the definition of mosaic disorders and how to reconcile the incredible inter- and intrapatient variability of mosaic disorders with the clinical imperative to have clear and distinct categorical diagnoses. Cold Spring Harbor Laboratory Press 2021-12 /pmc/articles/PMC8751412/ /pubmed/34887311 http://dx.doi.org/10.1101/mcs.a006163 Text en © 2021 Biesecker; 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 Commentary
Biesecker, Leslie G.
Mosaicism and the taxonomy of human disease
title Mosaicism and the taxonomy of human disease
title_full Mosaicism and the taxonomy of human disease
title_fullStr Mosaicism and the taxonomy of human disease
title_full_unstemmed Mosaicism and the taxonomy of human disease
title_short Mosaicism and the taxonomy of human disease
title_sort mosaicism and the taxonomy of human disease
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751412/
https://www.ncbi.nlm.nih.gov/pubmed/34887311
http://dx.doi.org/10.1101/mcs.a006163
work_keys_str_mv AT bieseckerleslieg mosaicismandthetaxonomyofhumandisease

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