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Article

Whole Exome Sequencing Identifies a Rare CFTR Mutation in Brothers With Anomalies of the Vas Deferens: A Case Study.

Urology - 1 May 2023

Campbell Katherine, Dullea Alexandra, Schuppe Kyle, Ghomeshi Armin, Ramsoomair Christian, Griswold Anthony J, Khodamoradi Kajal, Ramasamy Ranjith

Abstract excerpt

Congenital bilateral absence of the vas deferens (CBAVD) occurs in almost all men with cystic fibrosis. Prevailing theories on this pathophysiology relate to pathogenic mutations in the cystic fibrosis transmembrane regulator gene leading to agenesis or obliteration of vas deferens in utero. In this study, we present a case of two brothers with congenital anomalies of the vas deferens who were found to have...

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Identifiers

PMID: 36858322
DOI: 10.1016/j.urology.2023.02.017
PMCID: PMC10238635

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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