Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation

Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation

Abstract Background MEN1 mutations can inactivate or disrupt menin function and are leading to multiple endocrine neoplasia type 1, a rare heritable tumor syndrome. Case presentation We report on a MEN1 family with a novel heterozygous germline mutation, c.674delG; p.Gly225Aspfs*56 in exon 4 of the...

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Bibliographic Details
Main Authors: Christoph Welsch, Anna Katharina Flügel, Susanne Rondot, Egbert Schulze, Ishani Sircar, Judith Nußbaumer, Jörg Bojunga
Format: Article
Language:English
Published: BMC 2022-03-01
Series:BMC Endocrine Disorders
Subjects:
Case report
MEN1
Truncating mutation
Frameshift
Clinical phenotype
Online Access:https://doi.org/10.1186/s12902-022-00978-9

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