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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Bibliographic Details
Main Authors: Angela S. Gupta, Hind Al Saif, Jennifer M. Lent, Natario L. Couser
Format: Article
Language:English
Published: Hindawi Limited 2019-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2019/8492965