Associated Papers
First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.
Song A et al.
Annals of Pediatric Endocrinology & Metabolism, 2023
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
Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
Jurkiewicz D et al.
European Journal of Medical Genetics, 0
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