The PORCN non-Goltz spectrum (PONGOS): A new group of genetic disorders

Am J Med Genet A. 2021 Jan;185(1):13-14. doi: 10.1002/ajmg.a.61984. Epub 2020 Nov 21.
No abstract available

Publication types

  • Editorial
  • Comment

MeSH terms

  • Acyltransferases
  • Anophthalmos*
  • Focal Dermal Hypoplasia*
  • Humans
  • Membrane Proteins
  • Microphthalmos*

Substances

  • Membrane Proteins
  • Acyltransferases
  • PORCN protein, human