Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2006.00723.x/fullpdf
Reference16 articles.
1. The clinical picture of the Borjeson-Forssman Lehmann syndrome in males and heterozygous females with PHF6 mutations;Turner;Clin Genet,2004
2. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy;Stromme;Nat Genet,2002
3. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation;Turner;Am J Med Genet,2002
4. Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX;Partington;Clin Genet,2004
5. Coffin-Lowry syndrome: clinical and molecular features;Hanauer;J Med Genet,2002
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