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Article

Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.

Hormone research in paediatrics - 1 Jan 2010

Storr Helen L, Metherell Louise A, Dias Renuka, Savage Martin O, Rasmussen Ase K, Clark Adrian J L, Main Katharina M

Abstract excerpt

BACKGROUND/AIMS: Primary pigmented nodular adrenocortical disease (PPNAD) is associated with inactivating germline protein kinase A regulatory subunit type 1-alpha (PRKAR1A) mutations and loss of heterozygosity at the 17q22-24 locus in approximately 50% patients. PRKAR1A mutations are observed in both isolated PPNAD (iPPNAD) and Carney complex (CNC). Most mutations result in a functionally null-allele and exhibit...

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Identifiers

PMID: 20190548
DOI: 10.1159/000277629

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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