A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

European Journal of Human Genetics, Published online: 19 April 2021; doi:10.1038/s41431-021-00889-8A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

Source: European Journal of Human Genetics - April 19, 2021 Category: Genetics & Stem Cells Authors: Johanna L. Jones Mark A. Corbett Elise Yeaman Duran Zhao Jozef Gecz Robert J. Gasperini Jac C. Charlesworth David A. Mackey James E. Elder Jamie E. Craig Kathryn P. Burdon Source Type: research