Novel Germline Pathogenic Variant in Familial Multiple Endocrine Neoplasia Type 1
Year: 2024
Type: article
Abstract: Multiple Endocrine Neoplasia type 1 (MEN1) is a rare genetic disease, characterized by co-occurrence of several lesions of the endocrine system.In MEN1, the pathogenic MEN1 gene mutations lead to the Abnormal expression of menin, a critical tumor suppressor protein. We here reported a case of a 14‐year‐old male with insulinoma and primary hyperparathyroidism.
Source: Figshare
Author: Huang, HaoTian
Language: English
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W6902205151
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