Article
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.
American journal of medical genetics. Part A - 1 Dec 2011
Martinez Hugo R, Niu Mary C, Sutton V Reid, Pignatelli Ricardo, Vatta Matteo, Jefferies John L
Abstract excerpt
Coffin-Lowry syndrome (CLS) is an X-linked dominant condition characterized by moderate to severe mental retardation, characteristic facies, and hand and skeletal malformations. The syndrome is due to mutations in the gene that encodes the ribosomal protein S6 kinase-2, a growth factor-regulating protein kinase located on Xp22.2. Cardiac anomalies are known to be associated with CLS. Left ventricular...
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