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
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.
Senel S et al.
Genetic Counseling (geneva, Switzerland), 2011
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
Delaunoy JP et al.
Clinical Genetics, 2006
A female with Coffin-Lowry syndrome and "cataplexy".
Fryssira H et al.
Genetic Counseling (geneva, Switzerland), 2002
Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
Delaunoy J et al.
Human Mutation, 2001
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