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Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease.

Urology - 1 Aug 2022

Dullea Alexandra, Efimenko Iakov, Firdaus Fakiha, Griswold Anthony, Arora Himanshu, Masterson Thomas, Ramasamy Ranjith

Abstract excerpt

Peyronie's Disease (PD) is estimated to occur in up to 13% of males and has been associated with Dupuytren's Disease (DD). We identified 3 men with PD/DD and hypothesized that there may be a genetic association between the 2 diseases. Blood samples were collected from the participants and sent for whole genome sequencing. A rare non-synonymous mutation in the ALMS1 gene was identified in 3 men. Interestingly,...

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Identifiers

PMID: 35292292
DOI: 10.1016/j.urology.2022.02.023
PMCID: PMC9356975

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