P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature

Autor: 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
Zdroj: In Genetics in Medicine Open 2024 2 Supplement 1
Databáze: ScienceDirect