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GRISCELLI SYNDROME, TYPE 2

Known as: PAID Syndrome, Partial albinism and immunodeficiency, Griscelli syndrome type 2 
A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and… 
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal recessive inheritanceHypopigmentation disorderMuscle SpasticityRAB27A gene

Broader (3)

Immunologic Deficiency SyndromesLymphohistiocytosis, HemophagocyticPiebaldism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Hair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2
Griscelli syndrome type 2 (GS2) features silvery-grey hair, bronzed skin and immunodeficiency.1  The only curative treatment for… 
2019
2019
Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations
Supplemental Digital Content is available in the text. Griscelli syndrome type 2 (GS2) is an autosomal recessive condition… 
2018
2018
Nucleotide Prodrug Containing a Nonproteinogenic Amino Acid To Improve Oral Delivery of a Hepatitis C Virus Treatment
Delivery of pharmacologically active nucleoside triphosphate analogs to sites of viral infection is challenging. In prior work we… 
Review
2018
Review
2018
[Griscelli syndrome type 3: A new case].
2014
2014
A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3.
Griscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin (partial… 
2014
2014
Development of an Alternative Frontal Impact Condition to Assess Thoracic Response Using the THOR Mod Kit Dummy
In the course of developing an alternative test condition to explore torso response, the NHTSA’s THOR Mod Kit Dummy was evaluated… 
2012
2012
Nonlinear gyrokinetic simulations of intrinsic rotation in up-down asymmetric tokamaks
Justin.Ball@physics.ox.ac.uk • Worcester College, Oxford OX1 2HB, UK EDUCATION University of Oxford – Oxford, UK September 2013… 
2000
2000
On the pathogenesis of perforin defects and related immunodeficiencies.
1999
1999
Biochemical and genetic analysis of a Chlamydomonas reinhardtii mutant devoid of chloroplastic glutamine synthetase activity
Abstract. A spontaneous double mutant of Chlamydomonas reinhardtii, designated ARF3, was resistant to L-methionine-S-sulfoximine… 
1980
1980
Partial albinism and immunodeficiency: ultrastructural study of haemophagocytosis and bone marrow erythroblasts in one case.
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