<b><i>Novel Germline Pathogenic Variant in Familial Multiple Endocrine Neoplasia Type 1</i></b>

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 <i>MEN1</i> 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.

Publication Details

Journal
Figshare
Published
2024-09-15
DOI
https://doi.org/10.6084/m9.figshare.27021544
Primary Topic
Neuroendocrine Tumor Research Advances
Type
article
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article

Novel Germline Pathogenic Variant in Familial Multiple Endocrine Neoplasia Type 1

Figshare
Neuroendocrine Tumor Research Advances
article

Novel Germline Pathogenic Variant in Familial Multiple Endocrine Neoplasia Type 1

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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 <i>MEN1</i> 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.

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Neuroendocrine Tumor Research Advances
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<b><i>Novel Germline Pathogenic Variant in Familial Multiple Endocrine Neoplasia Type 1</i></b> · Figshare (2024) | TGRS Research Map | TGRS