Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?

J Med Genet. 2002 Jun;39(6):440-2. doi: 10.1136/jmg.39.6.440.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adenylosuccinate Lyase / deficiency*
  • Child, Preschool
  • Facies
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Maxillofacial Abnormalities / pathology*
  • Models, Biological
  • Purines / metabolism
  • Seizures / diagnosis

Substances

  • Purines
  • Adenylosuccinate Lyase