Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome
Yue Huang, Katheryn Grand, Virginia Kimonis, Merlin G Butler, Suparna Jain, Alden Yen-Wen Huang, Julian A Martinez-Agosto, Stanley F Nelson, Pedro A Sanchez-Lara
Journal of Medical Genetics Jul 2022, 59 (7) 719-722; DOI: 10.1136/jmedgenet-2020-107674