Primary autosomal recessive microcephaly: a novel clinical phenotype

Genet Couns. 2005;16(1):107-8.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cell Cycle Proteins
  • Child
  • Child, Preschool
  • Chromosome Disorders / complications
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 15 / genetics
  • Chromosomes, Human, Pair 18 / genetics
  • Chromosomes, Human, Pair 19 / genetics
  • Chromosomes, Human, Pair 9 / genetics
  • Cytoskeletal Proteins
  • Face / abnormalities
  • Genes, Recessive / genetics*
  • Humans
  • Male
  • Microcephaly / genetics*
  • Nerve Tissue Proteins / genetics
  • Pedigree
  • Phenotype*
  • Point Mutation / genetics

Substances

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