Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly

Am J Med Genet A. 2010 Nov;152A(11):2882-5. doi: 10.1002/ajmg.a.33672.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle Proteins
  • Child
  • Cohort Studies
  • Consanguinity
  • Cytoskeletal Proteins
  • DNA Mutational Analysis
  • Female
  • Genes, Recessive / genetics*
  • Humans
  • Male
  • Microcephaly / genetics*
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*

Substances

  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • MCPH1 protein, human
  • Nerve Tissue Proteins