Waardenburg syndrome: a rare cause of inherited neuropathy due toSOX10mutation-Reference-Cited by-同舟云学术

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Waardenburg syndrome: a rare cause of inherited neuropathy due toSOX10mutation

Published:2017-09 Issue:3 Volume:22 Page:219-223
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Bogdanova-Mihaylova Petya¹,Alexander Michael D.²,Murphy Raymond P. J.¹,Murphy Sinéad M.¹³

Affiliation:

1. Department of Neurology; Adelaide & Meath Hospitals incorporating the National Children's Hospital; Tallaght Ireland

2. Department of Neurophysiology; Adelaide & Meath Hospitals incorporating the National Children's Hospital; Tallaght Ireland

3. Academic Unit of Neurology; Trinity College Dublin; Dublin Ireland

Funder

Novartis

Teva

Bayer

Lundbeck

Biogen

Merck-Serono

Ataxia Ireland

Meath Foundation

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jns.12221/fullpdf

Reference28 articles.

1. The neurocristopathies: a unifying concept of disease arising in neural crest maldevelopment;Bolande;Hum Pathol,1974

2. The role of SOX10 during enteric nervous system development;Bondurand;Dev Biol,2013

3. Expression of the SOX10 gene during human development;Bondurand;FEBS Lett,1998

4. Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10;Bondurand;Hum Mol Genet,2001

5. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4;Bondurand;Am J Hum Genet,2007

Cited by 12 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. Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report;BMC Medical Genomics;2024-04-24

2. Syndromic Hearing Loss in Children;Neuroimaging Clinics of North America;2023-11

3. Three novel variants in SOX10 gene: Waardenburg and PCWH syndromes;Egyptian Journal of Medical Human Genetics;2022-03-06

4. A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy;BMC Neurology;2021-06-25

5. Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome;Gene Therapy;2021-02-25

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