An unusual case of nephrotic syndrome in a microcephalic infant: Answers

Pediatr Nephrol. 2019 Nov;34(11):2327-2329. doi: 10.1007/s00467-019-04261-3. Epub 2019 May 8.
No abstract available

Keywords: Clinical utility; Exome sequencing; Galloway Mowat syndrome; LAGE3; Microcephaly; Nephrotic syndrome.

Publication types

  • Case Reports

MeSH terms

  • Carrier Proteins / genetics*
  • Chromosomes, Human, X / genetics*
  • Exome Sequencing
  • Failure to Thrive / complications
  • Failure to Thrive / diagnosis
  • Failure to Thrive / genetics*
  • Fatal Outcome
  • Genetic Testing / methods
  • Hernia, Hiatal / diagnosis*
  • Hernia, Hiatal / genetics
  • Humans
  • Infant
  • Male
  • Microcephaly / diagnosis*
  • Microcephaly / genetics
  • Nephrosis / diagnosis*
  • Nephrosis / genetics
  • Nephrotic Syndrome / complications
  • Nephrotic Syndrome / diagnosis
  • Nephrotic Syndrome / genetics*
  • Nephrotic Syndrome / therapy
  • RNA Splice Sites / genetics

Substances

  • Carrier Proteins
  • LAGE3 protein, human
  • RNA Splice Sites

Supplementary concepts

  • Galloway Mowat syndrome