D2b. Signs and Symptoms


All MPSs have a remarkably wide phenotypic spectrum

 

 

 

 

 

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All MPSs are recognised by a remarkably wide spectrum of phenotypic severity. Severe to relatively attenuated. This of course has to do with the mutation involved in the disease, if there’s a large mutation, deletion, inversion you will probably have a severe phenotype, if it’s a mild missense mutation you will end up with a more attenuated phenotype.

 

 

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