Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype

Am J Med Genet A. 2015 Jun;167(6):1400-5. doi: 10.1002/ajmg.a.36848. Epub 2015 Apr 2.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Blepharophimosis / diagnosis
  • Blepharophimosis / genetics*
  • Blepharophimosis / pathology
  • Child, Preschool
  • Chromosomes, Human, Pair 8
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology
  • DNA Copy Number Variations*
  • Facies
  • Female
  • Genotype
  • Heterozygote
  • Humans
  • Male
  • Monosomy*
  • Oligonucleotide Array Sequence Analysis
  • Phenotype*

Supplementary concepts

  • Chromosome 8 deletion
  • Nablus mask-like facial syndrome