CUGC for syndromic microphthalmia including next-generation sequencing-based approaches

Eur J Hum Genet. 2020 May;28(5):679-690. doi: 10.1038/s41431-019-0565-4. Epub 2020 Jan 2.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Loci
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • High-Throughput Nucleotide Sequencing / methods*
  • High-Throughput Nucleotide Sequencing / standards
  • Humans
  • Microphthalmos / diagnosis
  • Microphthalmos / genetics*
  • Mutation
  • Sensitivity and Specificity
  • Sequence Analysis, DNA / methods*
  • Sequence Analysis, DNA / standards