Sex reversal and diaphragmatic hernia in phenotypicaly female sibs with normal XY chromosomes

J Med Genet. 2000 Apr;37(4):315-8. doi: 10.1136/jmg.37.4.315.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Disorders of Sex Development*
  • Female
  • Hernia, Diaphragmatic / genetics*
  • Hernia, Diaphragmatic / physiopathology
  • Hernias, Diaphragmatic, Congenital
  • Humans
  • Infant, Newborn
  • Nuclear Family
  • Pedigree
  • Phenotype
  • X Chromosome*
  • Y Chromosome*