Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation

J Med Genet. 2004 May;41(5):e70. doi: 10.1136/jmg.2003.015065.
No abstract available

MeSH terms

  • Bayes Theorem
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / diagnostic imaging
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Female
  • Genes, Recessive
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Testing*
  • Heterozygote
  • Humans
  • Intestines / diagnostic imaging
  • Mutation*
  • Parents
  • Pregnancy
  • Risk Assessment
  • Ultrasonography, Prenatal*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator

Associated data

  • OMIM/602421