Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1

Am J Med Genet A. 2010 Feb;152A(2):495-7. doi: 10.1002/ajmg.a.33234.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosome Aberrations*
  • Chromosome Breakage*
  • Chromosomes / ultrastructure
  • Craniosynostoses / genetics*
  • Cytoskeletal Proteins
  • DNA Mutational Analysis
  • Humans
  • Mice
  • Microcephaly / genetics*
  • Microsatellite Repeats / genetics
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Phenotype

Substances

  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • Cytoskeletal Proteins
  • MCPH1 protein, human
  • MCPH1 protein, mouse
  • Nerve Tissue Proteins