Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria

Warburg Micro syndrome is a rare autosomal recessive disease due to mutation in the RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. It is commonly seen in consanguineous marriages, characterized by optic (microcornea, microphthalmia, congenital cataracts), neurologic )microcephaly, corpus callosum hypo...

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Detalles Bibliográficos
Autores principales: Tenawi, Soubhi, Al Khudari, Rawan, Alasmar, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243722/
https://www.ncbi.nlm.nih.gov/pubmed/32477580
http://dx.doi.org/10.1093/omcr/omaa031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243722/
https://www.ncbi.nlm.nih.gov/pubmed/32477580
http://dx.doi.org/10.1093/omcr/omaa031

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