Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

Clin Genet. 2013 Mar;83(3):288-90. doi: 10.1111/j.1399-0004.2012.01901.x. Epub 2012 Jul 23.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 1 / genetics
  • Exome / genetics*
  • Family Health
  • Female
  • Genes, X-Linked / genetics
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Microcephaly / genetics*
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Reproducibility of Results
  • Sequence Analysis, DNA / methods*

Substances

  • ASPM protein, human
  • Nerve Tissue Proteins