Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

G Ménasché, CH Ho, O Sanal… - The Journal of …, 2003 - Am Soc Clin Investig
Griscelli syndrome (GS) is a rare autosomal recessive disorder that associates
hypopigmentation, characterized by a silver-gray sheen of the hair and the presence of large …

Two genes are responsible for Griscelli syndrome at the same 15q21 locus

E Pastural, F Ersoy, N Yalman, N Wulffraat, E Grillo… - Genomics, 2000 - Elsevier
Griscelli syndrome is a rare autosomal recessive disease characterized by pigment dilution,
variable cellular immunodeficiency, and an acute phase of uncontrolled T lymphocyte and …

Griscelli syndrome: a model system to study vesicular trafficking

M Van Gele, P Dynoodt… - Pigment cell & melanoma …, 2009 - Wiley Online Library
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in
either the myosin VA (GS1), RAB27A (GS2) or melanophilin (GS3) genes. The three GS …

[PDF][PDF] Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A

Y Anikster, M Huizing, PD Anderson… - The American Journal of …, 2002 - cell.com
Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial
albinism, along with immunologic abnormalities or severe neurological impairment or both …

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

G Ménasché, E Pastural, J Feldmann, S Certain… - Nature …, 2000 - nature.com
Abstract Griscelli syndrome (GS, MIM 214450), a rare, autosomal recessive disorder, results
in pigmentary dilution of the skin and the hair, the presence of large clumps of pigment in …

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

E Pastural, FJ Barrat, R Dufourcq-Lagelouse… - Nature …, 1997 - nature.com
Griscelli disease (OMIM 214450) is a rare autosomal recessive disorder characterized by
pigmentary dilution, variable cellular immunodeficiency and onset of acute phases of …

Griscelli disease: genotype–phenotype correlation in an array of clinical heterogeneity

O Sanal, F Ersoy, I Tezcan, A Metin, L Yel… - Journal of clinical …, 2002 - Springer
Griscelli disease is a rare autosomal recessive disorder characterized by diffuse pigmentary
dilution and occurrence of acute phases of uncontrolled lymphocyte and macrophage …

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

M Meeths, YT Bryceson, E Rudd, C Zheng… - Pediatric blood & …, 2010 - Wiley Online Library
Background Griscelli syndrome type 2 (GS2) is an autosomal‐recessive immunodeficiency
caused by mutations in RAB27A, clinically characterized by partial albinism and …

Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome

DC Barral, JS Ramalho, R Anders… - The Journal of …, 2002 - Am Soc Clin Investig
Griscelli syndrome (GS) patients and the corresponding mouse model ashen exhibit defects
mainly in two types of lysosome-related organelles, melanosomes in melanocytes and lytic …

Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature

AJ Mancini, LS Chan, AS Paller - Journal of the American Academy of …, 1998 - Elsevier
Partial albinism with immunodeficiency (Griscelli syndrome) is an uncommon disorder
characterized by pigmentary dilution and variable immunodeficiency. Features include a …