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

Author:

Iwama Kazuhiro12ORCID,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

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