Rett Syndrome without MECP2 Mutation in a Pakistani Girl
Rett syndrome is a rare inherited neurodegenerative disease which mostly affects females but has a lethal impact on males. Rett syndrome is mostly caused by mutations of Methyl CpG binding protein-2 (MECP2) gene located on chromosome Xq28. A 7-year girl from a consanguineous Pakistani family presen...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
National University of Medical Sciences
2020-04-01
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| シリーズ: | Life and Science |
| 主題: | |
| オンライン･アクセス: | https://ojs.lifenscience.org/index.php/life-and-science/article/view/77 |
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