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Griscelli syndrome type 2: a novel mutation in |
Kirtisudha Mishra, Shilpy Singla, Suvasini Sharma, Renu Saxena, Vineeta Vijay Batra |
Clin Exp Pediatr. 2014;57(2):91-95. Published online February 24, 2014 DOI: https://doi.org/10.3345/kjp.2014.57.2.91 |
Griscelli syndrome type 2: a novel mutation inRAB27Agene with different clinical features in 2 siblings: a diagnostic conundrum Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene Novel RAB27A Mutation Distinguishes Hypopigmentation From Cytotoxic Dysfunction in Griscelli Syndrome Type 2 A novel single point mutation of the LYST
gene in two siblings with different phenotypic features of Chediak Higashi syndrome Functional rescue “in vitro” of cytotoxic activity by Rab27a gene reposition in griscelli syndrome-type 2 Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutation Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot Clinical features and mutation ofNPHP5in two Chinese siblings with Senior-Løken syndrome A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome A further Turkish case of Griscelli syndrome with new RAB27A mutation |