Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts-Reference-Cited by-同舟云学术

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts

Published:2017-03-30 Issue:2 Volume:92 Page:180-187
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Iwama Kazuhiro¹²^ORCID,Mizuguchi Takeshi¹,Takanashi Jun‐ichi³,Shibayama Hidehiro⁴,Shichiji Minobu⁵,Ito Susumu⁵,Oguni Hirokazu⁵,Yamamoto Toshiyuki⁶,Sekine Akiko⁷,Nagamine Shun⁷,Ikeda Yoshio⁷,Nishida Hiroya⁸,Kumada Satoko⁸,Yoshida Takeshi⁹,Awaya Tomonari⁹¹⁰,Tanaka Ryuta¹¹,Chikuchi Ryo¹²,Niwa Hisayoshi¹²,Oka Yu‐ichi¹³,Miyatake Satoko¹,Nakashima Mitsuko¹,Takata Atsushi¹,Miyake Noriko¹,Ito Shuichi²,Saitsu Hirotomo¹⁴,Matsumoto Naomichi¹

Affiliation:

1. Department of Human Genetics, Graduate School of Medicine Yokohama City University Yokohama Japan

2. Department of Pediatrics, Graduate School of Medicine Yokohama City University Yokohama Japan

3. Department of Pediatrics and Pediatric Neurology Tokyo Women's Medical University, Yachiyo Medical Center Yachiyo Japan

4. Department of Neurology Kameda Medical Center Kamogawa Japan

5. Department of Pediatrics Tokyo Women's Medical University Tokyo Japan

6. Institute of Medical Genetics Tokyo Women's Medical University Tokyo Japan

7. Department of Neurology Gunma University Graduate School of Medicine Maebashi Japan

8. Department of Neuropediatrics Tokyo Metropolitan Neurological Hospital Tokyo Japan

9. Department of Pediatrics Kyoto University Graduate School of Medicine Kyoto Japan

10. Department of Anatomy and Developmental Biology Kyoto University Graduate School of Medicine Kyoto Japan

11. Department of Child Health, Faculty of Medicine University of Tsukuba Tsukuba Japan

12. Department of Neurology Kariya Toyota General Hospital Kariya Japan

13. Department of Neurosurgery Nagoya City University Hospital Nagoya Japan

14. Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Japan Science and Technology Agency

Takeda Science Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12991

Reference23 articles.

1. Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: A new progressive disorder due to diffuse cerebral microangiopathy

2. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

3. Cerebroretinal microangiopathy with calcifications and cysts

4. Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

5. Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus

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