Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis

Clin Genet. 2003 Sep;64(3):258-60. doi: 10.1034/j.1399-0004.2003.00125.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Female
  • Frameshift Mutation*
  • Genes, sry*
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Humans
  • Infant, Newborn
  • Italy
  • Mutation, Missense*
  • Point Mutation*