학술논문
Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5germline mutation: Clinical status and possible association with other neoplasms
Document Type
Article
Author
Source
Endocrinología, Diabetes y Nutrición; March 2024, Vol. 71 Issue: 3 p119-123, 5p
Subject
Language
ISSN
25300164
Abstract
Mutations in the ARMC5(armadillo repeat containing 5, OMIM 615549) gene, a putative tumor suppressor gene, have recently been identified as a common cause of sporadic and familial bilateral macronodular adrenal hyperplasia (BMAH). Familial BMAH is thought to be caused by two mutations, one germline and the other somatic, as suggested by the 2-hit theory. The objective is to describe a new mutation and develop its clinical characteristics and implications.