Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene

Clin Dysmorphol. 2017 Jul;26(3):148-153. doi: 10.1097/MCD.0000000000000182.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosome Mapping
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics*
  • Facies
  • Female
  • Genetic Association Studies*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Magnetic Resonance Imaging
  • NFI Transcription Factors / genetics*
  • Pedigree
  • Polymicrogyria / diagnosis*
  • Polymicrogyria / genetics*

Substances

  • NFI Transcription Factors
  • NFIA protein, human