Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A-Reference-Cited by-同舟云学术

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

Published:2012-10-03 Issue:5 Volume:21 Page:494-502
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012209.pdf

Reference27 articles.

1. Liu JS : Molecular genetics of neuronal migration disorders. Curr Neurol Neurosci Rep 2011; 11: 171–178.

2. Andrade DM : Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. Hum Genet 2009; 126: 173–193.

3. Robertson SP, Filamin A : Phenotypic diversity. Curr Opin Genet Dev 2005; 15: 301–307.

4. Sheen VL, Jansen A, Chen MH et al: Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology 2005; 64: 254–262.

5. Gómez-Garre P, Seijo M, Gutiérrez-Delicado E et al: Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. J Med Genet 2006; 43: 232–237.

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