Next-generation phenotyping in cat-eye syndrome based on computer-aided facial dysmorphology analysis of normal photographs

Mol Genet Genomic Med. 2021 Oct;9(10):e1785. doi: 10.1002/mgg3.1785. Epub 2021 Aug 25.

Abstract

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aneuploidy
  • Child
  • Child, Preschool
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 22 / genetics
  • Diagnosis, Computer-Assisted / methods*
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / genetics*
  • Facies*
  • Female
  • Germany
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Pattern Recognition, Automated / methods*
  • Phenotype*
  • ROC Curve
  • Young Adult

Supplementary concepts

  • Schmid-Fraccaro syndrome