Associated Papers
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.
Fellows BJ et al.
American Journal of Medical Genetics. Part A, 2024
First clinical report of an infant with microcephaly and CASC5 mutations.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2016
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Szczepanski S et al.
Human Genetics, 2016
Select a paper to view details