ArticleIndian journal of dermatology2014
An Indian boy with griscelli syndrome type 2: case report and review of literature.
Article in Indian journal of dermatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
12 citing papers in PubMed.
- Griscelli Syndrome in Two Siblings with Silvery Hair: A Case Report.JNMA; journal of the Nepal Medical Association · 2025Article
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- Silver hair in a neonate: a tale of 2 fatal cases.Oxford medical case reports · 2024Article
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- Genetic background of primary and familial HLH in Qatar: registry data and population study.Frontiers in pediatrics · 2024Article
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- Development, characterization, and hematopoietic differentiation of Griscelli syndrome type 2 induced pluripotent stem cells.Stem cell research & therapy · 2021Article
- Griscelli Syndrome in a seven years old girl.Clinical case reports · 2021Article
- Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.World journal of pediatrics : WJP · 2017Article
- Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature.Intractable & rare diseases research · 2017Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic dysfunction. Clinical course is characterized by recurrent infection triggered by uncontrolled T-lymphocyte and macrophage activation, called hemophagocytic syndrome. Since the primary presentation is with depigmented hair, we attempt to highlight diagnostic difficulties in such cases in developing countries like ours where pigmentary changes in hair and skin are commonly attributed to severe malnutrition. We also evaluated phenotype of all 10 cases of genotype (c.C550T; p.R184X), collected from published literature worldwide and emphasize the potential role of above mutation as hotspot in Southeast Asian region.
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