De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
Shenzhao Lu, Mengqi Ma, Xiao Mao, Carlos A. Bacino, Joseph Jankovic, V. Reid Sutton, James Bartley, Xueying Wang, Jill A. Rosenfeld, Ana Beleza‐Meireles, Jaynee Chauhan, Xueyang Pan, Megan Li, Pengfei Liu, Katrina Prescott, Sam Amin, George Davies, Michael F. Wangler, Yuwei Dai, Hugo J. Bellen
Topics & Concepts
RadixinBiologyMoesinGeneticsEzrinMissense mutationPhenotypeProbandDrosophila melanogasterAdherens junctionMutationCell biologyCellGeneCytoskeletonCadherinCellular transport and secretionHippo pathway signaling and YAP/TAZHereditary Neurological Disorders