Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly
Nucleoporin (NUP) 85 is a member of the Y-complex of nuclear pore complex (NPC) that is key for nucleocytoplasmic transport function, regulation of mitosis, transcription, and chromatin organization. Mutations in various nucleoporin genes have been linked to several human diseases. Among them, NUP85...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2023-02-01
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Series: | Frontiers in Neurology |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1124886/full |