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Article

Phenotypic continuum between POLE-related recessive disorders: A case report and literature review.

American journal of medical genetics. Part A - 1 Oct 2022

Roberts Maegan E, Nimrichter Sarah, Marshall Megan L, Flynn Elizabeth K, Person Rick, Hruska Kathleen S, Kruszka Paul, Juusola Jane

Abstract excerpt

POLE is a pleiotropic gene with phenotypic expression of pathogenic variants depending on the type of variant, impact on the protein, and mode of inheritance. Heterozygous missense variants located within the exonuclease domain have been shown to result in polymerase proofreading-associated polyposis (PPAP) which is characterized by an increased risk for colon polyps and colorectal cancer. Biallelic variants...

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Identifiers

PMID: 35860951
DOI: 10.1002/ajmg.a.62908

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