Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy

• Hauptverfasser: R Rajyalakshmi (VerfasserIn), R. N. B. Chakrapani (VerfasserIn)
• Format: Buch
• Veröffentlicht: Wolters Kluwer Medknow Publications, 2016-01-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1), RAB27A (GS2), and MLPH (GS3) genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent...