Associated Papers
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC et al.
Molecular Neurobiology, 2024
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
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