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Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.
Koh K, Tsuchiya M, Ishiura H, Shimazaki H, Nakamura T, Hara H, Suzuyama K, Takahashi M, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium. Koh K, et al. J Hum Genet. 2022 Feb;67(2):119-121. doi: 10.1038/s10038-021-00977-z. Epub 2021 Sep 6. J Hum Genet. 2022. PMID: 34483340