Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2006.00660.x/fullpdf
Reference15 articles.
1. The Coffin-Lowry syndrome;Hanauer;J Med Genet,2002
2. Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome;Delaunoy;Hum Mutat,2001
3. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome;Trivier;Nature,1996
4. Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations;Jacquot;Am J Hum Genet,1998
5. Role and regulation of 90 kDa ribosomal S6 kinase (RSK) in signal transduction;Frodin;Mol Cell Endocrinol,1999
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2. Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a de novo RPS6KA3 mutation;Frontiers in Genetics;2023-09-14
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4. First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review;Annals of Pediatric Endocrinology & Metabolism;2023-03-31
5. A rare case of Coffin–Lowry syndrome accompanied by a copper-beaten skull appearance;Neurology Asia;2023-03
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