Associated Papers
Identification of a New Mutation in RSK2, the Gene for Coffin-Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes.
Di Stazio M et al.
Brain Sciences, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Coffin-Lowry syndrome: clinical and molecular features.
Hanauer A et al.
Journal of Medical Genetics, 2002
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.
Zeniou M et al.
American Journal of Human Genetics, 2002
A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.
Touraine RL et al.
European Journal of Pediatrics, 2002
Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
Delaunoy J et al.
Human Mutation, 2001
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.
Manouvrier-Hanu S et al.
Journal of Medical Genetics, 1999
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