Ethiraj Ravindran Gaetan Lesca Louis Januel Linus Goldgruber Achim Dickmanns Henri Margot Angela M Kaindl
10.3389/fneur.2023.1124886
Front Neurol
2023 Feb 9;14:1124886.
mcph-scks nup85 brain development microcephaly speech disorder
CC BY
https://pubmed.ncbi.nlm.nih.gov/36846113/
Case Reports
PMC9947397
36846113
Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly
2023