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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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
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Article
Acesso em linha: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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