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A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.
Akutsu Y, Shirai K, Takei A, Goto Y, Aoyama T, Watanabe A, Imamura M, Enokizono T, Ohto T, Hori T, Suzuki K, Hayashi M, Masumoto K, Inoue K. Akutsu Y, et al. Among authors: suzuki k. Am J Med Genet A. 2018 May;176(5):1195-1199. doi: 10.1002/ajmg.a.38657. Am J Med Genet A. 2018. PMID: 29681101
Neurological outcomes and associated perinatal factors in infants born between 22 and 25 weeks with active care.
Ariyoshi Y, Iriyama T, Seyama T, Sayama S, Yano E, Suzuki K, Samejima T, Ichinose M, Toshimitsu M, Sone K, Ito A, Shitara Y, Kumasawa K, Kashima K, Kakiuchi S, Hirota Y, Takahashi N, Osuga Y. Ariyoshi Y, et al. Among authors: suzuki k. J Perinatol. 2024 Sep 18. doi: 10.1038/s41372-024-02093-0. Online ahead of print. J Perinatol. 2024. PMID: 39294298
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