Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A-Reference-Cited by-同舟云学术

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Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

Published:2020-04-10 Issue:6 Volume:45 Page:789-792
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Abd Elmaksoud M. S.¹,Gomaa N. S.²,Azouz H. G.¹,On C. N. V.³,Ho C. T.³,Omar T. E.¹,McGrath J. A.³^ORCID,Onoufriadis A.³^ORCID

Affiliation:

1. Department of Pediatrics Pediatric Neurology Unit Faculty of Medicine Alexandria University Alexandria Egypt

2. Dermatology Department Faculty of Medicine Tanta University Tanta Egypt

3. St John’s Institute of Dermatology School of Basic and Medical Biosciences King’s College London London UK

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ced.14220

Reference6 articles.

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

2. A syndrome associating partial albinism and immunodeficiency

3. Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5A

4. Hypomelanosis, immunity, central nervous system: No more ?and?, not the end

5. Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients

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1. Griscelli syndrome type 1: a novel pathogenic variant, and review of literature;Molecular Genetics and Genomics;2023-01-18

2. Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children;Applied Microscopy;2021-11-29

3. Refractory Seizure in a Patient With Griscelli Syndrome: A Unique Case With One Mutation and a Novel Deletion;Cureus;2021-04-10

4. Diagnostic and therapeutic caveats in Griscelli syndrome;Scandinavian Journal of Immunology;2021-03-20

5. Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome;Dermatopathology;2021-03-09

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