X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant

Pediatr Neonatol. 2023 Mar;64(2):208-209. doi: 10.1016/j.pedneo.2022.09.005. Epub 2022 Oct 26.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Hernia, Hiatal* / genetics
  • Humans
  • Microcephaly* / genetics
  • Nephrosis* / genetics

Substances

  • LAGE3 protein, human

Supplementary concepts

  • Galloway Mowat syndrome