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Article

End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes.

Journal of medical genetics - 25 May 2026

Damen L, Broekema M F, Vogel M J, Korpershoek E, Koudijs M J, Boersma B R, Dreijerink K M, Zondervan P J, Dubbink H J, van Hest L P

Abstract excerpt

Mosaicism refers to the presence of multiple cell clones with distinct genotypes arising from a single zygote. The phenotype of mosaic individuals depends on the extent of mosaicism, ranging from localised to almost generalised. We report three diagnostically challenging cases with previously unrecognised mosaicism in the tumour predisposition syndromes (TPS) von Hippel-Lindau syndrome, neurofibromatosis type 1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41702693
DOI: 10.1136/jmg-2025-111224
PMCID: PMC13217016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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