Coffin-Lowry syndrome
MIM.303600 Xp22.2-p22.1
Coffin-Lowry syndrome is caused by mutations in the RSK2 gene (RPS6KA3) (MIM.300075).
References
Nakamura M, Yamagata T, Mori M, Momoi MY. RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. Brain Dev. 2005 Mar;27(2):114-7. PMID: #15668050#
Ausio J, Levin DB, De Amorim GV, Bakker S, Macleod PM. Syndromes of disordered chromatin remodeling. Clin Genet. 2003 Aug;64(2):83-95. PMID: #12859401#
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