Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants

Terri L. McLaren, John N. De Roach, Jennifer A. Thompson, Fred K. Chen, David A. Mackey, Ling Hoffmann, Isabella R. Urwin, Tina M. Lamey

Hum Genome Var. 2020; 7: 35. Published online 2020 Oct 23. doi: 10.1038/s41439-020-00122-w

PMCID:  PMC7584600