De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations

Am J Med Genet A. 2011 Feb;155A(2):442-4. doi: 10.1002/ajmg.a.33814. Epub 2011 Jan 13.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Child
  • Chromosome Duplication / genetics*
  • Chromosomes, Human, Pair 11 / genetics*
  • Developmental Disabilities / genetics
  • Developmental Disabilities / pathology
  • Eye Abnormalities / genetics
  • Eye Abnormalities / pathology
  • Eye Proteins / genetics*
  • Female
  • Homeodomain Proteins / genetics*
  • Humans
  • Microcephaly / genetics
  • Microcephaly / pathology
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / pathology
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors / genetics*
  • Phenotype*
  • Repressor Proteins / genetics*
  • Seizures / genetics
  • Seizures / pathology

Substances

  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins