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

Arnaud LagardeGrégory MougelLucie CoppinMagalie HaissaguerreLauriane Le CollenAmira MohamedMarc KleinMarie-Françoise OdouAntoine TabarinHedia BrixiThomas CunyBrigitte DelemerAnne BarlierPauline Romanet
Published in: Endocrine connections (2022)
We report here three new cases with MEN1 mosaicism. This study examined the performance of UMI in the diagnosis of MEN1 mosaicism in routine practice, and our results underline that the frequency of mosaicism is probably underestimated in patients with suspected MEN1.
Keyphrases
  • middle aged
  • healthcare
  • primary care
  • clinical practice