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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Bibliographic Details
Main Authors: Frouzandeh Mahjoubi, Samira Shabani, Sogand Khakbazpour, Aylar Khaligh Akhlaghi
Format: Article
Language:English
Published: Wiley 2022-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2022/5452944
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