Variants in ADD1 Cause Intellectual Disability, Corpus Callosum Dysgenesis, and Ventriculomegaly in Humans.
Cai Qi,Irena Feng,Ana Rita Costa,Rita Pinto-Costa,Jennifer E. Neil,Oana Caluseriu,Dong Li,Rebecca D. Ganetzky,Charlotte Brasch-Andersen,Christina Fagerberg,Lars Kjaersgaard Hansen,Caleb Bupp,Colleen Clarke Muraresku,Xiangbin Ruan,Bowei Kang,Kaining Hu,Rong Zhong,Pedro Brites,Elizabeth J. Bhoj,Robert Sean Hill,Marni J. Falk,Hakon Hakonarson,Kristopher T. Kahle,Monica M. Sousa,Christopher A. Walsh,Xiaochang Zhang Genetics in Medicine（2021）
关键词
Adducin,Alternative splicing,Axon degeneration,Membrane-associated periodic,ring-like structure (MPS)
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