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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2022
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| 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 |