Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7

Am J Med Genet. 2000 Mar 20;91(3):237-9. doi: 10.1002/(sici)1096-8628(20000320)91:3<237::aid-ajmg17>3.0.co;2-8.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Dwarfism / genetics*
  • Exons
  • Female
  • Genes, Recessive
  • Genomic Imprinting*
  • Humans
  • Infant, Newborn
  • Male
  • Microsatellite Repeats
  • Mothers
  • Polymerase Chain Reaction
  • Pregnancy
  • Syndrome

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator