Griscelli-Syndrom Typ 2

Hurvitz H et al. (1993) A kindred with Griscelli disease: spectrum of neurological involvement.

Pastural E et al. (2000) Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

Ménasché G et al. (2000) Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Anikster Y et al. (2002) Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

Aksu G et al. (2003) Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans.

Bizario JC et al. (2004) Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.

Griscelli C et al. (1978) A syndrome associating partial albinism and immunodeficiency.

Harfi HA et al. () Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency.

Klein C et al. (1994) Partial albinism with immunodeficiency (Griscelli syndrome).

Durandy A et al. (1993) Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant).

Göğüş S et al. () Griscelli syndrome: report of three cases.

Mancini AJ et al. (1998) Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature.

Ménasché G et al. (2002) Griscelli syndrome types 1 and 2.

Bahadoran P et al. (2003) Hypomelanosis, immunity, central nervous system: no more "and", not the end.

Bahadoran P et al. (2003) Comment on Elejalde syndrome and relationship with Griscelli syndrome.