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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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Iran J Med Sci |
|---|---|
| Prif Awduron: | , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Iranian Journal of Medical Sciences
2019
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6661518/ https://ncbi.nlm.nih.gov/pubmed/31439979 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.30476/IJMS.2019.44945 |
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