Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Genetics in Medicine, Published online: 30 May 2021; doi:10.1038/s41436-021-01196-9Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Source: Genetics in Medicine - May 30, 2021 Category: Genetics & Stem Cells Authors: Gabriel C. Dworschak Jaya Punetha Jeshurun C. Kalanithy Enrico Mingardo Haktan B. Erdem Zeynep C. Akdemir Ender Karaca Tadahiro Mitani Dana Marafi Jawid M. Fatih Shalini N. Jhangiani Jill V. Hunter Tikam Chand Dakal Bhanupriya Dhabhai Omar Dabbagh Hessa S Source Type: research