Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.
Coffin Lowry Syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (Ribosomal S6 Kinase 2). Multiple mutations have been identified in RPS6KA3 that can give rise to the disorder, including missense ...
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