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Article

Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.

Medicine - 23 Oct 2020

Abidi Kamal T, Kamal Naglaa M, Bakkar Ayman A, Almarri Saad, Abdullah Rehab, Alsufyani Maram, Alharbi Arwa

Abstract excerpt

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 some cases loss of hearing. It is caused by mutations in Ectopic P-granules protein 5 gene, which is responsible for...

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Identifiers

PMID: 33120733
DOI: 10.1097/MD.0000000000022302
PMCID: PMC7581136

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