Title: Griscelle syndrome type 2 in a girl child in India with review of literature
Authors: Dr Kiran B, Praveen T, Prashanth JB
DOI: https://dx.doi.org/10.18535/jmscr/v10i4.17
Abstract
Griscelle syndrome type 2 is a rare autosomal recessive disorder due to mutation in RAB 27 gene. Silvery grey hair and light coloured skin with variable immunodeficiency is the characteristic clinical features. We report a girl child with Griscelle syndrome type 2 with typical clinical features and review of literature.
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