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Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review
RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in som...
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| Udgivet i: | Medicine (Baltimore) |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Lippincott Williams & Wilkins
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7581136/ https://ncbi.nlm.nih.gov/pubmed/33120733 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000022302 |
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