PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans-Like Nystagmus

Yuri Seo1, Tae Young Kim, Dongju Won

  • 1Department of Ophthalmology (YS), Institute of Vision Research, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, South Korea; Department of Ophthalmology (TYK, JH), Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea; Department of Laboratory Medicine (DW, JRC, S-TL), Yonsei University College of Medicine, Seoul, South Korea; and Division of Medical Genetics (GHS), 3billion Inc, Seoul, South Korea.

Abstract

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