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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2020
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| 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 |