大象加速器app下载

 

 

 Check Out Our Newsletter! and Subscribe for future News!

 
 
Check out more events

 
 
Check out more news


大象加速器app下载

Jansen’s metaphyseal chondrodysplasia (JMC) is an extremely rare skeletal dysplasia characterized by progressive
growth plate abnormalities that affect most of the long bones.

 JMC is usually diagnosed during childhood, based on a combination of radiographic and biochemical abnormalities. However, some patients are not diagnosed until adulthood.

The limbs of affected individuals typically show progressive changes that are caused by an abnormal regulation of chondrocyte growth and differentiation, eventually leading to short and bowed legs. X-rays during infancy show demineralization and rickets-like metaphyseal changes. Fraying of the metaphyses is seen during childhood. Long bones do not grow normally and result in severely reduced adult height.

There is usually severe hypercalcemia and hypophosphatemia despite normal or undetectable serum levels of PTH or PTHrP.

Four different mutations in the gene encoding the PTH/PTHrP receptor (PTHR1) have been identified in several unrelated Jansen's patients. 

There are, at present, about 30 genetically confirmed cases of JMC, worldwide.  Six of these cases are living here in America.

免费的翻外墙app下载  golink 加速器  快连vvv  老王vp加速器梯子  快连vpv安卓  express加速器安卓  黑豹VpN,XⅤlDOS  Express加速器