Congenital bilateral absence of vas deferens in the absence of cystic fibrosis

@article{Augarten1994CongenitalBA,
  title={Congenital bilateral absence of vas deferens in the absence of cystic fibrosis},
  author={A. Augarten and Y. Yahav and J. Laufer and A. Szeinberg and B. Kerem},
  journal={The Lancet},
  year={1994},
  volume={344},
  pages={1473-1474}
}
  • A. Augarten, Y. Yahav, +2 authors B. Kerem
  • Published 1994
  • Medicine
  • The Lancet
  • The high frequency of mutations in the cystic fibrosis gene in patients with congenital bilateral absence of vas deferens (CBAVD) has raised the question whether all of them have a genital form of cystic fibrosis. We investigated 47 CBAVD patients by ultrasonography, 10 (21%) had renal malformations and 37 (79%) did not. In the former group, no cystic fibrosis mutations were found and sweat chloride concentrations were normal. In the latter group, 18 patients (49%) carried at least one cystic… CONTINUE READING
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