Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy
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...
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Wolters Kluwer Medknow Publications,
2016-01-01T00:00:00Z.
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A1234.567 |
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| Kopie 1 | Beschikbaar |