What syndrome is this? Lesch-Nyhan syndrome

Pediatr Dermatol. 1996 Mar-Apr;13(2):169-70. doi: 10.1111/j.1525-1470.1996.tb01428.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Diagnosis, Differential
  • Exons / genetics
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / genetics
  • Lesch-Nyhan Syndrome / diagnosis*
  • Lesch-Nyhan Syndrome / genetics
  • Lesch-Nyhan Syndrome / physiopathology
  • Male
  • Point Mutation
  • X Chromosome / genetics

Substances

  • Hypoxanthine Phosphoribosyltransferase