Litcius/Paper detail

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

2022The American Journal of Human Genetics29 citationsDOIOpen Access PDF

Topics & Concepts

RadixinBiologyMoesinGeneticsEzrinMissense mutationPhenotypeProbandDrosophila melanogasterAdherens junctionMutationCell biologyCellGeneCytoskeletonCadherinCellular transport and secretionHippo pathway signaling and YAP/TAZHereditary Neurological Disorders