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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...
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| 出版年: | Iran J Med Sci |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Iranian Journal of Medical Sciences
2019
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| 主題: | |
| オンライン･アクセス: | 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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