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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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| Main Authors: | , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
BioMed Central
2014
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| Subjects: | |
| Online Access: | 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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