Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma
Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Carney complex (CNC) is an ultrarare disorder causing cutaneous and cardiac myxomas, primary pigmented nodular adrenocortical disease, hypophyseal adenoma, and gonadal tumours. Genetic alterations are often missed under routine genetic testing. Pathogenic variants in
PRKAR1A
are identified in most cases, while large exonic or chromosomal dele...
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Full title
Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma
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TN_cdi_doaj_primary_oai_doaj_org_article_31ca46c6b9444be99130d24177c8af51
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_31ca46c6b9444be99130d24177c8af51
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-023-41878-9
