Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
 free
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
 free
 free
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
lüll
Coffin-Lowry syndrome Pereira PM; Schneider A; Pannetier S; Heron D; Hanauer AEur J Hum Genet 2010[Jun]; 18 (6): 627-33Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. CLS is caused by mutations in the RPS6KA3 gene located at Xp22.2, which encodes RSK2, a growth-factor-regulated protein kinase. RPS6KA3 mutations are extremely heterogeneous and lead to loss of phosphotransferase activity in the RSK2 kinase, most often because of premature termination of translation.|Abnormalities, Multiple/genetics[MESH]|Bone Diseases, Developmental/diagnosis/epidemiology/genetics[MESH]|Coffin-Lowry Syndrome/*diagnosis/epidemiology/*genetics[MESH]|Humans[MESH]|Male[MESH]|Models, Biological[MESH]|Ribosomal Protein S6 Kinases, 90-kDa/genetics/physiology[MESH] |
