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Journal article

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.

Abstract:

CONTEXT: Bilateral macronodular adrenal hyperplasia (BMAH) is a rare form of adrenal Cushing's syndrome. Familial cases have been reported, but at the time we conducted this study, the genetic basis of BMAH was unknown. Recently, germline variants of armadillo repeat containing 5 (ARMC5) in patients with isolated BMAH and somatic, second-hit mutations in tumor nodules, were identified. OBJECTIVE: Our objective was to identify the genetic basis of familial BMAH. DESIGN: We performed whole exom...

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Publication status:
Published

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Publisher copy:
10.1210/jc.2014-1265

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Publisher:
Endocrine Society
Journal:
The Journal of clinical endocrinology and metabolism
Volume:
99
Issue:
9
Pages:
E1784-E1792
Publication date:
2014-09-05
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
URN:
uuid:4a4dcbd6-005d-47da-9cf3-5684c1e59269
Source identifiers:
483684
Local pid:
pubs:483684

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