Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features - Santiago-Sim, Teresa; Burrage, Lindsay C.; Ebstein, Frédéric; Tokita, Mari J.; Miller, Marcus; Bi, Weimin; Braxton, Alicia A.; Rosenfeld, Jill A.; Shahrour, Maher; Lehmann, Andrea; Cogné, Benjamin; Küry, Sébastien; et al. (American journal of human genetics, 2017)
Keywords: Abnormalities, Multiple - genetics; Adolescent; Animals; Cells; Child; Child, Preschool; Disease Models, Animal; Endopeptidases - genetics; Female; Gene Deletion; Humans; Intellectual Disability - genetics; Male; Mice; Pedigree; Proteasome Endopeptidase Complex - genetics; Proteasome Endopeptidase Complex - metabolism; Proteins; RNA-protein interactions; Rodents; Seizures - genetics; Tumors