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Article

Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia.

Familial cancer - 1 Dec 2013

Zhu Jie, Cui Liang, Wang Wei, Hang Xing-Yi, Xu A-Xiang, Yang Su-Xia, Dou Jing-Tao, Mu Yi-Ming, Zhang Xu, Gao Jiang-Ping

Abstract excerpt

ACTH independent macronodular adrenal hyperplasia (AIMAH) is a rare disorder characterized by bilateral macronodular hyperplasia of the adrenal glands and increased cortisol production with subclinical or overt Cushing's syndrome. Although the family clustering of AIMAH is infrequent, we have tri...

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Source

Identifiers

PMID: 23754170
DOI: 10.1007/s10689-013-9642-y

Genes

EDNRA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23754170-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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