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Article

GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report.

BMC pediatrics - 4 Aug 2022

Tong Yajie, Yue Dongmei, Xin Ying, Zhang Dan

Abstract excerpt

BACKGROUND: Primary adrenal insufficiency in children has non-specific and extensive clinical features, so the diagnosis of its etiology is complex and challenging. Although congenital adrenal hyperplasia is the most common cause, more and more other genetic causes have been identified. GNAS mutation is easily overlooked as a rare cause of primary adrenal insufficiency. Here we firstly report a neonatal case of...

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Identifiers

PMID: 35927642
DOI: 10.1186/s12887-022-03517-6
PMCID: PMC9351131

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