Thus, based on the reported cases in the literature and present case, it is likely possible to predict the onset of symptoms and the disease severity depending on the mutation… Click to show full abstract
Thus, based on the reported cases in the literature and present case, it is likely possible to predict the onset of symptoms and the disease severity depending on the mutation in HEXA gene and its subsequent effect on the residual β‐hexosaminidase A activity. Hence, establishing genotype‐phenotype correlation is critical to understand the patient prognosis and plan effective management of the condition.
               
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