Griscelli syndrome type 1: a report of two cases and review of the literature-Reference-Cited by-同舟云学术

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Griscelli syndrome type 1: a report of two cases and review of the literature

Published:2009-07 Issue:3 Volume:18 Page:145-148
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Thomas Ellen R.,Walker Lisa J.,Pullaperuma Sunil,Cooper Beatrice,Brueton Louise A.,Basile Geneviéve de Saint,Suri Mohnish,Brady Angela F.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference12 articles.

1. Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A;Anikster;Am J Hum Genet,2002

2. Comment on Elejalde syndrome and relationship with Griscelli syndrome;Bahadoran;Am J Med Genet,2003

3. Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene;Bizario;J Clin Immunol,2004

4. Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak–Higashi syndrome and variant);Durandy;Prenat Diagn,1993

5. Mutations affecting pigmentation in man: i. Neurectodermal melanolysosomal disease;Elejalde;Am J Med Genet,1979

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