COH1 analysis and linkage study in two Japanese families with Cohen syndrome

Clin Genet. 2005 Mar;67(3):270-2. doi: 10.1111/j.1399-0004.2005.00396.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Face / abnormalities
  • Female
  • Genetic Linkage*
  • Humans
  • Intellectual Disability / genetics*
  • Japan
  • Male
  • Membrane Proteins / genetics*
  • Muscle Hypotonia / genetics
  • Neutropenia / genetics
  • Pedigree
  • Phenotype
  • Syndrome
  • Vesicular Transport Proteins

Substances

  • Membrane Proteins
  • VPS13B protein, human
  • Vesicular Transport Proteins