Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans
Purpose: Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown. Methods: We used exome sequencing to uncov...
Main Authors: | Bhoj, E.J (Author), Brasch-Andersen, C. (Author), Brites, P. (Author), Bupp, C. (Author), Caluseriu, O. (Author), Costa, A.R (Author), Fagerberg, C. (Author), Falk, M.J (Author), Feng, I. (Author), Ganetzky, R.D (Author), Hakonarson, H. (Author), Hansen, L.K (Author), Hill, R.S (Author), Hu, K. (Author), Kahle, K.T (Author), Kang, B. (Author), Li, D. (Author), Muraresku, C.C (Author), Neil, J.E (Author), Pinto-Costa, R. (Author), Qi, C. (Author), Ruan, X. (Author), Sousa, M.M (Author), Walsh, C.A (Author), Zhang, X. (Author), Zhong, R. (Author) |
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Format: | Article |
Language: | English |
Published: |
Elsevier B.V.
2022
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Subjects: | |
Online Access: | View Fulltext in Publisher |
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