Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)

Mol Genet Metab. 2010 Mar;99(3):329. doi: 10.1016/j.ymgme.2009.11.006. Epub 2009 Nov 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, X / genetics*
  • Female
  • Granulomatous Disease, Chronic / genetics*
  • Humans
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics*
  • Retinitis Pigmentosa / genetics*