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RSS FeedsA very early diagnosis of Alstrӧm syndrome by next generation sequencing (BMC Medical Genetics)

 
 

1 september 2020 22:11:13

 
A very early diagnosis of Alstrӧm syndrome by next generation sequencing (BMC Medical Genetics)
 


Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hea...


 
249 viewsCategory: Genetics, Medicine
 
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Risk prediction for coronary heart disease by a genetic risk score - results from the Heinz Nixdorf Recall study (BMC Medical Genetics)
 
 
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