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...

Descripción completa

Detalles Bibliográficos
Autores principales: Gupta, Angela S., Saif, Hind Al, Lent, Jennifer M., Couser, Natario L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476065/
https://www.ncbi.nlm.nih.gov/pubmed/31093388
http://dx.doi.org/10.1155/2019/8492965

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476065/
https://www.ncbi.nlm.nih.gov/pubmed/31093388
http://dx.doi.org/10.1155/2019/8492965

Ejemplares similares