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

Seo, Yuri; Kim, Tae Young; Won, Dongju; Choi, Jong Rak; Seo, Go Hun; Lee, Seung-Tae; Han, Jinu

Seo, Yuri; Kim, Tae Young; Won, Dongju; Choi, Jong Rak; Seo, Go Hun; Lee, Seung-Tae; Han, Jinu.

Afiliação

Seo Y; Department 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.

J Neuroophthalmol ; 43(4): e316-e318, 2023 Dec 01.

Article em En | MEDLINE | ID: mdl-35427297

Assuntos

Nistagmo Patológico; Atrofia Óptica; Espasmos Infantis; Humanos; Lactente; Nistagmo Patológico/diagnóstico; Nistagmo Patológico/etiologia; Atrofia Óptica/diagnóstico; Proteínas Tirosina Fosfatases não Receptoras

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Atrofia Óptica / Nistagmo Patológico Limite: Humans / Infant Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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