Associated Papers
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Maia N et al.
American Journal of Medical Genetics. Part A, 2023
Characterization of pediatric hepatocellular carcinoma reveals genomic heterogeneity and diverse signaling pathway activation.
Haines K et al.
Pediatric Blood & Cancer, 2019
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.
Nakamura M et al.
Brain & Development, 2005
Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
Delaunoy J et al.
Human Mutation, 2001
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.
Jacquot S et al.
American Journal of Human Genetics, 1998
Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
Jurkiewicz D et al.
European Journal of Medical Genetics, 0
Select a paper to view details