Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease

Am J Med Genet A. 2003 Mar 15;117A(3):299-301. doi: 10.1002/ajmg.a.10230.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Cafe-au-Lait Spots / pathology*
  • Child, Preschool
  • Chromosomes, Human, Pair 17 / genetics
  • Humans
  • Male
  • Microcephaly / pathology*
  • Moyamoya Disease / pathology*
  • Neurofibromin 1 / genetics
  • Osteochondrodysplasias / pathology*

Substances

  • Neurofibromin 1