Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele

J Med Genet. 2000 Aug;37(8):E15. doi: 10.1136/jmg.37.8.e15.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles*
  • Child
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Genetic Counseling
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Intestines / embryology*
  • Male
  • Mutation
  • Pregnancy

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator