Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family

Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family

Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, e...

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Bibliographic Details
Main Authors: Aleksandra Gilis-Januszewska, Anna Bogusławska, Kornelia Hasse-Lazar, Beata Jurecka-Lubieniecka, Barbara Jarząb, Anna Sowa-Staszczak, Marta Opalińska, Magdalena Godlewska, Anna Grochowska, Anna Skalniak, Alicja Hubalewska-Dydejczyk
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Genes
Subjects:
cascade genetic screening
hyperparathyroidism
multiple endocrine neoplasia type 1
pancreatic neuroendocrine tumor
pituitary tumor
Online Access:https://www.mdpi.com/2073-4425/12/4/512

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https://www.mdpi.com/2073-4425/12/4/512

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