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Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.

Endocrinology and metabolism (Seoul, Korea) - 1 Dec 2024

Kim Boram, Lee Seung Hun, Ahn Chang Ho, Jang Han Na, Cho Sung Im, Lee Jee-Soo, Lee Yu-Mi, Kim Su-Jin, Sung Tae-Yon, Lee Kyu Eun, Lee Woochang, Koh Jung-Min, Seong Moon-Woo, Kim Jung Hee

Abstract excerpt

BACKGRUOUND: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants. METHODS: This multicenter retrospective study reviewed the medical...

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Source

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Identifiers

PMID: 39552147
DOI: 10.3803/EnM.2024.2008
PMCID: PMC11695471

Genes

MEN1

Provenance

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