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

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

Fingerprint

Dive into the research topics of 'Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation'. Together they form a unique fingerprint.

Biochemistry, Genetics and Molecular Biology

Keyphrases