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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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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Gupta, Angela S., Saif, Hind Al, Lent, Jennifer M., Couser, Natario L.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2019
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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