De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia

Clin Dysmorphol. 2017 Apr;26(2):95-97. doi: 10.1097/MCD.0000000000000144.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Brain / abnormalities
  • Brain / diagnostic imaging
  • Codon, Nonsense*
  • Comparative Genomic Hybridization
  • Fatal Outcome
  • Female
  • Genetic Association Studies*
  • Genetic Testing
  • Genotype
  • Hernias, Diaphragmatic, Congenital / diagnosis*
  • Hernias, Diaphragmatic, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Karyotype
  • Magnetic Resonance Imaging
  • Malformations of Cortical Development / diagnosis*
  • Malformations of Cortical Development / genetics*
  • Methyltransferases / genetics*
  • Phenotype
  • Whole Genome Sequencing

Substances

  • Codon, Nonsense
  • Methyltransferases
  • SETD5 protein, human