Article
Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family.
Genes - 31 Mar 2021
Gilis-Januszewska Aleksandra, Bogusławska Anna, Hasse-Lazar Kornelia, Jurecka-Lubieniecka Beata, Jarząb Barbara, Sowa-Staszczak Anna, Opalińska Marta, Godlewska Magdalena, Grochowska Anna, Skalniak Anna, Hubalewska-Dydejczyk Alicja
Abstract excerpt
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, even between affected members within the same family. We describe a heterogenic phenotype of the MEN1 variant...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.