| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8681156 | Brain and Development | 2018 | 4 Pages |
Abstract
Here we report on a 2-year-old boy with Coffin-Lowry syndrome with a novel missense mutation in the RPS6KA3 gene. On magnetic resonance imaging, his brain exhibited periventricular signal abnormalities with multiple small cystic lesions. These findings may aid in diagnosis of Coffin-Lowry syndrome.
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Developmental Neuroscience
Authors
Yohane Miyata, Ken Saida, Satoko Kumada, Noriko Miyake, Hideaki Mashimo, Yuya Nishida, Ikuko Shirai, Eiji Kurihara, Yasuhiro Nakata, Naomichi Matsumoto,