Novel <i>RAB3GAP1</i> Mutation in the First Tunisian Family With Warburg Micro Syndrome-Reference-Cited by-同舟云学术

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Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome

Published:2022 Issue:2 Volume:18 Page:214
ISSN:1738-6586
Container-title:Journal of Clinical Neurology
language:en
Short-container-title:J Clin Neurol

Author:

Kerkeni Nesrine¹^ORCID,Kharrat Maher¹^ORCID,Maazoul Faouzi¹²^ORCID,Boudabous Hela³^ORCID,M’rad Ridha¹²^ORCID,Trabelsi Mediha¹²^ORCID

Affiliation:

1. University of Tunis El Manar, Faculty of Medicine of Tunis, Laboratory of Human Genetics LR99ES10, Tunis, Tunisia.

2. Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.

3. Department of Paediatrics, Rabta Hospital, Tunis, Tunisia.

Publisher

Korean Neurological Association

Subject

Neurology (clinical),Neurology

Link

https://thejcn.com/pdf/10.3988/jcn.2022.18.2.214

Reference75 articles.

1. New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

2. Autosomal Recesssive Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy, and Hypogenitalism

3. Micro syndrome in Muslim Pakistan children11The authors have no proprietary interests in relation to this article and its content.

4. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family;International Journal of Developmental Neuroscience;2023-04-25

2. Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome;Genes;2022-12-14

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