Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly

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...

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Bibliographic Details
Main Authors: Ethiraj Ravindran, Gaetan Lesca, Louis Januel, Linus Goldgruber, Achim Dickmanns, Henri Margot, Angela M. Kaindl
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Neurology
Subjects:
NUP85
microcephaly
brain development
speech disorder
MCPH-SCKS
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1124886/full

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