De Novo Variants in FRYL Are Associated with Developmental Delay, Intellectual Disability, and Dysmorphic Features
Xueyang Pan,Alice M. Tao,Shenzhao Lu,Mengqi Ma,Shabab B. Hannan,Rachel Slaugh, Sarah Drewes Williams,Lauren O'Grady,Oguz Kanca,Richard Person,Melissa T. Carter,Konrad Platzer,Franziska Schnabel,Rami Abou Jamra,Amy E. Roberts,Jane W. Newburger,Anya Revah-Politi,Jorge L. Granadillo,Alexander P. A. Stegmann,Margje Sinnema,Andrea Accogli,Vincenzo Salpietro, Valeria Capra,Lina Ghaloul-Gonzalez,Martina Brueckner,Marleen E. H. Simon,David A. Sweetser,Kevin E. Glinton,Susan E. Kirk,Michael F. Wangler,Shinya Yamamoto,Wendy K. Chung,Hugo J. Bellen The American Journal of Human Genetics（2024）
Key words
FRYL,furry,Drosophila,developmental delay,intellectual disability,rare disease
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