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Ocular Manifestations of the NAA10-Related Syndrome
The NAA10-related syndrome is a rare X-linked neurodevelopmental condition that was first described in 2011. The disorder is caused by pathogenic variants in the NAA10 gene located on chromosome X at position Xq28. Clinical features typically include severe psychomotor developmental delay, cardiac d...
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| Publicado no: | Case Rep Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6476065/ https://ncbi.nlm.nih.gov/pubmed/31093388 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/8492965 |
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