Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay.

Hizal, Mina; Yeke, Batuhan; Yildiz, Yilmaz; Öztürk, Ali; Gürbüz, Berrak Bilginer; Coskun, Turgay

Hizal, Mina; Yeke, Batuhan; Yildiz, Yilmaz; Öztürk, Ali; Gürbüz, Berrak Bilginer; Coskun, Turgay.

Afiliação

Hizal M; Divisions of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara.
Yeke B; Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
Yildiz Y; Divisions of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara.
Öztürk A; Department of Pediatric Emergency Care, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey.
Gürbüz BB; Divisions of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara.
Coskun T; Divisions of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara.

Turk J Pediatr ; 62(3): 474-478, 2020.

Article em En | MEDLINE | ID: mdl-32558422

Assuntos

Albinismo; Catarata; Agenesia do Corpo Caloso/diagnóstico; Agenesia do Corpo Caloso/genética; Proteínas Relacionadas à Autofagia; Humanos; Proteínas de Transporte Vesicular

Palavras-chave

EPG5 mutation; Vici syndrome; autophagy; oculocutaneous albinism

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Albinismo Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Turk J Pediatr Ano de publicação: 2020 Tipo de documento: Article

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