FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals.

Abstract excerpt

F-box protein 11 (FBXO11) is a member of F-Box protein family, which has recently been proved to be associated with intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA, OMIM: 618089). In this study, 12 intellectual disability individuals from 5 Chinese ID families were collected, and whole exome sequencing (WES), sanger sequencing, and RNA sequencing (RNA-seq) were...

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• Child, Preschool
• China
• East Asian People
• Exome Sequencing
• F-Box Proteins