De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

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🔗 View Article (PMID 26354034)

Published in J Hum Genet on September 10, 2015

Authors

Chihiro Ohba1,2, Kazuhiro Haginoya3, Hitoshi Osaka4,5, Kazuo Kubota6, Akihiko Ishiyama6, Takuya Hiraide6, Hirofumi Komaki6, Masayuki Sasaki6, Satoko Miyatake1, Mitsuko Nakashima1, Yoshinori Tsurusaki1, Noriko Miyake1, Fumiaki Tanaka2, Hirotomo Saitsu1, Naomichi Matsumoto1

Author Affiliations

1: Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
2: Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
3: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
4: Division of Neurology, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
5: Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
6: Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.

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