Associated Papers
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
Maroofian R et al.
Journal of Medical Genetics, 2023
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Vecchio D et al.
Clinical Genetics, 2022
Select a paper to view details