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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Detalles Bibliográficos
Autores principales: Ravindran, Ethiraj, Lesca, Gaetan, Januel, Louis, Goldgruber, Linus, Dickmanns, Achim, Margot, Henri, Kaindl, Angela M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947397/
https://www.ncbi.nlm.nih.gov/pubmed/36846113
http://dx.doi.org/10.3389/fneur.2023.1124886

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947397/
https://www.ncbi.nlm.nih.gov/pubmed/36846113
http://dx.doi.org/10.3389/fneur.2023.1124886

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