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Article

Allelic heterogeneity of Proteus syndrome.

Cold Spring Harbor molecular case studies - 1 Jun 2020

Buser Anna, Lindhurst Marjorie J, Kondolf Hannah C, Yourick Miranda R, Keppler-Noreuil Kim M, Sapp Julie C, Biesecker Leslie G

Abstract excerpt

Proteus syndrome is a mosaic disorder that can cause progressive postnatal overgrowth of nearly any organ or tissue. To date, Proteus syndrome has been exclusively associated with the mosaic c.49G > A p.(Glu17Lys) pathogenic variant in AKT1, a variant that is also present in many cancers. Here we describe an individual with severe Proteus syndrome who died at 7.5 yr of age from combined parenchymal and...

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Identifiers

PMID: 32327430
DOI: 10.1101/mcs.a005181
PMCID: PMC7304363

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