DYNC2H1 variants cause Leber congenital amaurosis without syndromic features

Clin Genet. 2021 Jul;100(1):111-113. doi: 10.1111/cge.13958. Epub 2021 Mar 23.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Cytoplasmic Dyneins / genetics*
  • Female
  • Humans
  • Infant
  • Leber Congenital Amaurosis / genetics*
  • Mutation / genetics*
  • Pedigree

Substances

  • DYNC2H1 protein, human
  • Cytoplasmic Dyneins