Rare neurological manifestations in a Saudi Arabian patient with Ehlers–Danlos syndrome and a novel homozygous variant in the TNXB gene-Reference-Cited by-同舟云学术

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Rare neurological manifestations in a Saudi Arabian patient with Ehlers–Danlos syndrome and a novel homozygous variant in the TNXB gene

Published:2021-10-11 Issue:2 Volume:188 Page:618-623
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Al‐Harbi Talal M.¹^ORCID,Al‐Rammah Haya²,Al‐Zahrani Naif¹,Liu Yichuan³^ORCID,Sleiman Patrick M. A.³⁴,Dridi Walid²,Hakonarson Hakon³⁴^ORCID

Affiliation:

1. Neurology Department, Neuroscience Centre King Fahad Specialist Hospital‐Dammam Dammam Saudi Arabia

2. Genetic Unit, Pathology and Laboratory Medicine Department King Fahad Specialist Hospital‐Dammam Dammam Saudi Arabia

3. Center for Applied Genomics (CAG) The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

4. Department of Pediatrics, The Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62539

Reference16 articles.

1. The international consortium on the Ehlers-Danlos syndromes

2. The Ehlers-Danlos syndromes, rare types

3. Neurological manifestations of Ehlers‐Danlos syndrome(s): A review;Castori M.;Iranian Journal of Neurology,2014

4. Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes

5. Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing

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. Biomarkers and Rehabilitation for Functional Neurological Disorder;Journal of Personalized Medicine;2024-09-07

2. Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system;Frontiers in Genetics;2023-08-30

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