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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Publicat a:Genes (Basel)
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2021
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8067145/
https://ncbi.nlm.nih.gov/pubmed/33807230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12040512
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