1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

Eur J Hum Genet. 2004 Oct;12(10):787-9. doi: 10.1038/sj.ejhg.5201228.
No abstract available

Publication types

  • Letter

MeSH terms

  • Arginine / genetics
  • Female
  • Humans
  • Hypogonadism / genetics
  • Male
  • Obesity / genetics*
  • Pedigree
  • Point Mutation / genetics*
  • Syndrome
  • X-Linked Intellectual Disability / diagnosis
  • X-Linked Intellectual Disability / genetics*

Substances

  • Arginine