SUN-909 A Unique Presentation of Multiple Endocrine Neoplasia (MEN) Type 1 Mosaicism Caused by a Novel c.124G>A Variant in the MEN1 Gene

The MEN1 gene is positioned on the long arm of chromosome 11 (11q13) and results in the production of menin. A classical tumour suppressor gene; the spectrum of reported germline MEN1 mutations occur throughout the gene with no strong genotype/phenotype relationship. Mosaicism is extremely rare, a r...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Endocr Soc
Prif Awduron: Drummond, Russell Sinclair, Harte, Rachel, Hilmi, Omar, Currie, Gemma, Hughes, Kate, McManus, Frances, Carty, David Martin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2020
Pynciau:
Tumor Biology
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208174/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1704
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