Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chr...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Shiraz University of Medical Sciences
2019-07-01
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| Series: | Iranian Journal of Medical Sciences |
| Subjects: | |
| Online Access: | http://ijms.sums.ac.ir/article_44945_4f890fa69883ee7631610f8b3b7db657.pdf |