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

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 MEN1 ge...

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Detalles Bibliográficos
Autores principales: Welsch, Christoph, Flügel, Anna Katharina, Rondot, Susanne, Schulze, Egbert, Sircar, Ishani, Nußbaumer, Judith, Bojunga, Jörg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8919629/
https://www.ncbi.nlm.nih.gov/pubmed/35287658
http://dx.doi.org/10.1186/s12902-022-00978-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8919629/
https://www.ncbi.nlm.nih.gov/pubmed/35287658
http://dx.doi.org/10.1186/s12902-022-00978-9

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