P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature
- Resource Type
- Abstract
- Authors
- Booth, Kevin; Jangam, Sharayu; Man Chun Chui, Martin; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; White, Kerry; Christensen, Celanie; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy; Lynch, Sally; Mullegama, Sureni; Baptista, Julia; Iancu, Daniela; Joss, Shelag; CY Mak, Christopher; Kwong, Anna; Bellen, Hugo; Conboy, Erin; Sanges, Remo; Wangler, Michael F.; Hon-Yin Chung, Brian; Vetrini, Francesco
- Source
- In Genetics in Medicine Open 2024 2 Supplement 1
- Subject
- Language
- ISSN
- 2949-7744