X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene

Hum Mol Genet. 1994 Dec;3(12):2255-6. doi: 10.1093/hmg/3.12.2255.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Aphasia / genetics
  • Base Sequence
  • Cerebral Aqueduct / abnormalities
  • Female
  • Gait / genetics
  • Humans
  • Hydrocephalus / genetics*
  • Intellectual Disability / genetics
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation / genetics*
  • Polymorphism, Genetic
  • Sex Chromosome Aberrations / genetics*
  • Syndrome
  • Thumb / abnormalities
  • X Chromosome / genetics*