Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review-Reference-Cited by-同舟云学术

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Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review

Published:2017-09-25 Issue:3 Volume:10 Page:149-153
ISSN:2005-940X
Container-title:Journal of Movement Disorders
language:en
Short-container-title:JMD

Author:

Park Kye Won,Ryu Ho-Sung,Kim Juyeon,Chung Sun Ju

Funder

Ministry of Health and Welfare

Publisher

The Korean Movement Disorder Society

Subject

Clinical Neurology,Neurology

Link

http://www.e-jmd.org/upload/jmd-17050.pdf

Reference10 articles.

1. Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

2. Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

3. Neurological manifestations of the oculodentodigital dysplasia syndrome

4. GJA1mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

5. A Novel GJA1 Mutation in Oculodentodigital Dysplasia with Progressive Spastic Paraplegia and Sensory Deficits

Cited by 5 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. Glial Connexins and Pannexins in the Healthy and Diseased Brain;Physiological Reviews;2021-01-01

2. Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases;Case Reports in Ophthalmological Medicine;2020-04-06

3. Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement;American Journal of Neuroradiology;2019-05

4. Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review;Ophthalmic Genetics;2019-01-02

5. Sclerosing bone dysplasias;Best Practice & Research Clinical Endocrinology & Metabolism;2018-10

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