MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families

J Med Genet. 1992 Mar;29(3):215. doi: 10.1136/jmg.29.3.215-a.
No abstract available

Publication types

  • Letter

MeSH terms

  • Aphasia / genetics
  • Female
  • Genetic Linkage / genetics*
  • Humans
  • Hydrocephalus / genetics*
  • Intellectual Disability / genetics
  • Male
  • Mutation / genetics
  • Paraplegia / genetics*
  • Syndrome
  • Thumb / abnormalities
  • X Chromosome*