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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Detalles Bibliográficos
Autores principales: LaPointe, Monique M, Spriggs, Elizabeth L, Mhanni, Aizeddin A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
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

Internet

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

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