The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach

Indian J Ophthalmol. 2022 Jul;70(7):2693-2694. doi: 10.4103/ijo.IJO_64_22.
No abstract available

Keywords: CHM; choroideremia; genetic counseling; whole-genome sequencing.

MeSH terms

  • Choroideremia* / diagnosis
  • Choroideremia* / genetics
  • Exome Sequencing
  • Genetic Counseling*
  • Humans
  • Pedigree
  • Sequence Analysis, DNA