De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability-Reference-Cited by-同舟云学术

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De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability

Published:2010-04 Issue:2 Volume:19 Page:73-75
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Banka Siddharth,Lloyd I. Chris,Black Graeme,Trueman Stephen,Gibbs John,Clayton-Smith Jill

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

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

Reference23 articles.

1. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy;Chen;Nat Genet,1993

2. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse;Clark;Nat Immunol,2003

3. Association of the AP-3 adaptor complex with clathrin;Dell'Angelica;Science,1998

4. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the [beta]3A subunit of the AP-3 adaptor;Dell'Angelica;Mol Cell,1999

5. Diagnostic criteria for Walker-Warburg syndrome;Dobyns;Am J Med Genet,1989

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