Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

Alex R. Paciorkowski, Judy Weisenberg, Joshua B. Kelley, Adam Spencer, Emily Tuttle, Dalia Ghoneim, Liu Lin Thio, Susan L. Christian, William B. Dobyns, Bryce M. Paschal

European Journal of Human Genetics · 2013 · 32 citations · 22 references

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