Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene

Am J Med Genet A. 2009 Aug;149A(8):1846-9. doi: 10.1002/ajmg.a.32981.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Aberrations
  • Cohort Studies
  • Comparative Genomic Hybridization
  • Female
  • Genomic Instability*
  • Humans
  • Mutation / genetics
  • Orofaciodigital Syndromes / genetics*
  • Orofaciodigital Syndromes / pathology
  • Proteins / genetics*

Substances

  • OFD1 protein, human
  • Proteins