Novel EPG5 Mutation Associated with Vici Syndrome Gene

INTRODUCTION: Vici syndrome (also known as immunodeficiency with cleft lip/palate, cataract, and hypopigmentation and absent corpus callosum) is considered as a progressive neurodevelopmental multisystem disorder. Till date, only 80 cases, including our patient, with this syndrome have been reported...

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Detalles Bibliográficos
Autores principales: Mahjoubi, Frouzandeh, Shabani, Samira, Khakbazpour, Sogand, Khaligh Akhlaghi, Aylar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9277209/
https://www.ncbi.nlm.nih.gov/pubmed/35846893
http://dx.doi.org/10.1155/2022/5452944

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9277209/
https://www.ncbi.nlm.nih.gov/pubmed/35846893
http://dx.doi.org/10.1155/2022/5452944

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