A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy-Reference-Cited by-同舟云学术

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A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy

Published:2023-03-29 Issue:9 Volume:44 Page:3363-3368
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Yang Haojun,Wu Zhongling,Li Xiaolei,Huang Yuanxin,Li Jing,He Fang,Feng Li,Xiao Bo,Tang Weiting^ORCID

Funder

National key research and development program

National Natural Science Foundation of China

Natural Science Foundation of Hunan Province

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10072-023-06767-z.pdf

Reference9 articles.

1. Wolf NI et al (2014) Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 83(21):1898–1905

2. Minnerop M et al (2017) Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain 140(6):1561–1578

3. Vanderver A et al (2013) More than hypomyelination in Pol-III disorder. J Neuropathol Exp Neurol 72(1):67–75

4. Hiraide T et al (2020) Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy. J Hum Genet 65(10):921–925

5. Wu S et al (2019) Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report. BMC Pediatr 19(1):289

Cited by 3 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. POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience;Frontiers in Neurology;2024-03-14

2. Case Report: Pol III-Related Leukodystrophy with Developmental Delay and Short Stature;Advances in Clinical Medicine;2024

3. A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review;Frontiers in Neurology;2023-10-27

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