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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057563/ https://www.ncbi.nlm.nih.gov/pubmed/24906659 http://dx.doi.org/10.1186/1471-2377-14-125 |