Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity-Reference-Cited by-同舟云学术

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Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity

Published:2012-08-30 Issue:12 Volume:57 Page:804-806
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Miyatake Satoko,Touho Hajime,Miyake Noriko,Ohba Chihiro,Doi Hiroshi,Saitsu Hirotomo,Taguri Masataka,Morita Satoshi,Matsumoto Naomichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2012105.pdf

Reference16 articles.

1. Suzuki, J. & Takaku, A. Cerebrovascular ‘moyamoya’ disease. Disease showing abnormal net-like vessels in base of brain. Arch. Neurol. 20, 288–299 (1969).

2. Bigi, S., Fischer, U., Wehrli, E., Mattle, H. P., Boltshauser, E., Burki, S. et al. Acute ischemic stroke in children versus young adults. Ann. Neurol 70, 245–254 (2011).

3. Mackay, M. T., Wiznitzer, M., Benedict, S. L., Lee, K. J., Deveber, G. A. & Ganesan, V. Arterial ischemic stroke risk factors: the International Pediatric Stroke Study. Ann. Neurol. 69, 130–140 (2011).

4. Kamada, F., Aoki, Y., Narisawa, A., Abe, Y., Komatsuzaki, S., Kikuchi, A. et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J. Hum. Genet. 56, 34–40 (2011).

5. Liu, W., Morito, D., Takashima, S., Mineharu, Y., Kobayashi, H., Hitomi, T. et al. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS ONE 6, e22542 (2011).

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