Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome

Am J Med Genet A. 2014 Jan;164A(1):259-63. doi: 10.1002/ajmg.a.36163. Epub 2013 Nov 20.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Blepharophimosis / diagnosis*
  • Blepharophimosis / genetics*
  • Brain / pathology
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 8*
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics*
  • Facies
  • Genetic Association Studies
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Phenotype*

Supplementary concepts

  • Nablus mask-like facial syndrome