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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2013
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Article
Accés en línia: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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