Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.

Gelijkaardige items

• Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
  door: Bienvenu, T, et al.
  Gepubliceerd in: (1993)
• Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.
  door: Bienvenu, T, et al.
  Gepubliceerd in: (1995)
• Diabetes and Primary Infertility in Young Males: Do Not Forget Cystic Fibrosis
  door: Chakraborty, Partha Pratim, et al.
  Gepubliceerd in: (2015)
• Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.
  door: Cheadle, J, et al.
  Gepubliceerd in: (1992)
• A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease.
  door: Chalkley, G, et al.
  Gepubliceerd in: (1991)