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Germline mosaicism in X-linked periventricular nodular heterotopia
BACKGROUND: X-linked periventricular nodular heterotopia is a disorder of neuronal migration resulting from mutations in the filamin A gene. This is an X-linked dominant condition where most affected patients are female and present with seizures. Extra–cerebral features such as cardiac abnormalities...
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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: |
BioMed Central
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4057563/ https://ncbi.nlm.nih.gov/pubmed/24906659 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-14-125 |
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