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Mosaicism and the taxonomy of human disease.

ABSTRACT: 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.

SUBMITTER: Biesecker LG

PROVIDER: S-EPMC8751412 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

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Mosaicism and the taxonomy of human disease.

Biesecker Leslie G LG

Cold Spring Harbor molecular case studies 20211209 6

Two papers in this special issue of Cold Spring Harbor <i>Molecular Case Studies</i> 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. ...[more]

PMID: 34887311

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