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Article

Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis.

European journal of endocrinology - 1 Dec 2022

McGlacken-Byrne Sinéad M, Abdelmaksoud Ashraf, Haini Mohammad, Palm Liina, Ashworth Michael, Li Juan, Wang Wei, Wang Xiumin, Wang Jian, Callaghan Bridget, Kinsler Veronica A, Faravelli Francesca, Dattani Mehul T

Abstract excerpt

SIGNIFICANCE STATEMENT: We describe a mosaic PRKACA duplication in a young infant who presented with a Carney-like complex: bilateral non-pigmented micronodular adrenal hyperplasia, severe early-onset Cushing's syndrome, and distinct acral soft tissue overgrowth due to cutaneous mucinosis. This represents a novel manifestation of PRKACA disruption and broadens the extra-adrenal phenotype of PRKACA-associated...

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Identifiers

PMID: 36691942
DOI: 10.1530/EJE-22-0287

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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