Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome

Clin Dysmorphol. 2010 Jan;19(1):35-37. doi: 10.1097/MCD.0b013e328333c20a.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum
  • Child
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / genetics
  • Female
  • Glomerulosclerosis, Focal Segmental / diagnosis*
  • Glomerulosclerosis, Focal Segmental / genetics
  • Hearing Loss / diagnosis*
  • Hearing Loss / genetics
  • Hernia / diagnosis
  • Humans
  • Karyotyping
  • Low Density Lipoprotein Receptor-Related Protein-2 / genetics*
  • Phenotype
  • Proteinuria / diagnosis
  • Proteinuria / genetics
  • Syndrome

Substances

  • Low Density Lipoprotein Receptor-Related Protein-2