De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Natalie Ahmad,Walid Fazeli,Sophia Schliesske,Gaetan Lesca,Zeynep Gokce-Samar,Kedous Y. Mekbib,Sheng Chih Jin,Jennifer Burton,George Hoganson,Andrea Petersen,Sara Gracie,Leslie Granger,Enrika Bartels,Henry Oppermann,Adam Kundishora,Marianne Till,Clara Milleret-Pignot, Shane Danger,David Viskochil,Katherine J. Anderson,Timothy Blake Palculict,Rhonda E. Schnur,Ingrid M. Wentzensen,George E. Tiller,Kristopher T. Kahle,Wolfram S. Kunz,Sebastian Burkart,Matias Simons,Heinrich Sticht,Rami Abou Jamra,Sonja Neuser Pediatric Neurology(2023)
Key words
RAB11B,Neurodevelopmental disorder,GTPase,Genotype-phenotype correlation,RAB11A
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