Rare Genetic Disease: Griscelli Syndrome

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This article examines the exceptionally rare genetic disease known as Griscelli syndrome. In the first section of the text, a brief description of Griscelli syndrome and its history is given. Following the description, the genetic basis of Griscelli syndrome type 1, type 2, and type 3 is thoroughly examined. Each variation of griscelli syndrome follows the same pattern of inheritance and is generally characterized by pigmentary abnormalities in the skin and hair, however, they each display their own unique sets of associated conditions and symptoms, vary in terms of lethality, and are all associated with mutations in different genes. Researchers have found that Griscelli syndrome type 1 is directly linked to at least two mutations in the MYO5A

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