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