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Article

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human genetics - 1 Oct 2013

Cooper David N, Krawczak Michael, Polychronakos Constantin, Tyler-Smith Chris, Kehrer-Sawatzki Hildegard

Abstract excerpt

Some individuals with a particular disease-causing mutation or genotype fail to express most if not all features of the disease in question, a phenomenon that is known as 'reduced (or incomplete) penetrance'. Reduced penetrance is not uncommon; indeed, there are many known examples of 'disease-causing mutations' that fail to cause disease in at least a proportion of the individuals who carry them. Reduced...

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Identifiers

PMID: 23820649
DOI: 10.1007/s00439-013-1331-2
PMCID: PMC3778950

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