Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG"

Am J Med Genet A. 2022 Jan;188(1):382-383. doi: 10.1002/ajmg.a.62511. Epub 2021 Sep 25.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Adaptor Proteins, Vesicular Transport / genetics
  • Codon, Nonsense*
  • Congenital Disorders of Glycosylation*
  • Homozygote
  • Humans
  • Sexual Development

Substances

  • Adaptor Proteins, Vesicular Transport
  • COG6 protein, human
  • Codon, Nonsense