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Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms

16 Sept 2022

Abstract excerpt

Purpose: Mosaicism is a feature of several inherited tumor syndromes. Only a few cases of mosaicism have been described in multiple endocrine neoplasia type 1 (MEN1). Next-generation sequencing (NGS) offers new possibilities for detecting mosaicism. Here, we report the first study to systematically look for MEN1 mosaicism, using blood DNA, in MEN1-suspected patients but without MEN1 pathogenic variants (PV) in a...

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PMID: 36112497
DOI: 10.1530/ec-22-0093

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