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P588: De Novo and Inherited Variants in DDX39B Cause a Novel Neurodevelopmental Syndrome Characterized by Hypotonia, Epilepsy, and Short Stature

Kevin Booth,Sharayu Jangam,Martin Man Chun Chui,Kayla Treat, Lorenzo Graziani,Alessia Soldano,Kerry White,Celanie Christensen,Ty Lynnes,Shinya Yamamoto,Oguz Kanca, Mandy Tsang,Sally Lynch,Sureni Mullegama,Julia Baptista,Daniela Iancu, Shelag Joss,Christopher CY Mak, Anna Kwong,Hugo Bellen

Genetics in Medicine Open（2024）

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Brain Development
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