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MOLECULAR DIAGNOSTICS OF TUBEROUS SCLEROSIS
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Tuberous sclerosis is a hereditary disease of phakomatoses group, characterized by the development of multiple hamartomas of brain, eyes, skin and visceral organs. Diagnostics of tuberous sclerosis requires identification of pathogenic mutations within TSC1 or TSC2 genes. Here we present a description of clinical case of tuberous sclerosis followed by detection of the causative mutation.
Title: MOLECULAR DIAGNOSTICS OF TUBEROUS SCLEROSIS
Description:
Tuberous sclerosis is a hereditary disease of phakomatoses group, characterized by the development of multiple hamartomas of brain, eyes, skin and visceral organs.
Diagnostics of tuberous sclerosis requires identification of pathogenic mutations within TSC1 or TSC2 genes.
Here we present a description of clinical case of tuberous sclerosis followed by detection of the causative mutation.
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