Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hypermo...

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التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Reinstein, Eyal, Frentz, Sophia, Morgan, Tim, García-Miñaúr, Sixto, Leventer, Richard J, McGillivray, George, Pariani, Mitchel, van der Steen, Anthony, Pope, Michael, Holder-Espinasse, Muriel, Scott, Richard, Thompson, Elizabeth M, Robertson, Terry, Coppin, Brian, Siegel, Robert, Bret Zurita, Montserrat, Rodríguez, Jose I, Morales, Carmen, Rodrigues, Yuri, Arcas, Joaquín, Saggar, Anand, Horton, Margaret, Zackai, Elaine, Graham, John M, Rimoin, David L, Robertson, Stephen P
التنسيق: Artigo
اللغة:Inglês
منشور في: Nature Publishing Group 2013
الموضوعات:
Article
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC3641385/
https://ncbi.nlm.nih.gov/pubmed/23032111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.209
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