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Article

Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion.

The Journal of clinical endocrinology and metabolism - 1 Nov 2017

Stelmachowska-Banas Maria, Zgliczynski Wojciech, Tutka Piotr, Carney J Aidan, Korbonits Márta

Abstract excerpt

Context: Carney complex (CNC) is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumors and a variety of pigmented skin lesions. CNC can be inherited as an autosomal dominant trait, but in about one-third of patients, the disease is caused by de novo mutation in the PRKAR1A gene localized on chromosome 17q22-24. Most of the mutations include single base substitutions and...

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Identifiers

PMID: 28973408
DOI: 10.1210/jc.2017-01045
PMCID: PMC5673275

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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