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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Detalles Bibliográficos
Autores principales: Abidi, Kamal T., Kamal, Naglaa M., Bakkar, Ayman A., Almarri, Saad, Abdullah, Rehab, Alsufyani, Maram, Alharbi, Arwa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581136/
https://www.ncbi.nlm.nih.gov/pubmed/33120733
http://dx.doi.org/10.1097/MD.0000000000022302

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581136/
https://www.ncbi.nlm.nih.gov/pubmed/33120733
http://dx.doi.org/10.1097/MD.0000000000022302

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