A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia

Clin Genet. 2019 May;95(5):631-633. doi: 10.1111/cge.13513. Epub 2019 Feb 21.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alternative Splicing / genetics*
  • Exons / genetics*
  • Female
  • Frameshift Mutation / genetics*
  • Homozygote
  • Humans
  • Hydrocephalus / complications*
  • Hydrocephalus / diagnostic imaging
  • Hydrocephalus / genetics*
  • Infant
  • Kidney Diseases / complications*
  • Kidney Diseases / diagnostic imaging
  • Kidney Diseases / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins / genetics*
  • Pedigree
  • Tumor Suppressor Proteins / genetics*

Substances

  • DLG5 protein, human
  • Membrane Proteins
  • Tumor Suppressor Proteins