Article
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Blood - 24 Nov 2011
Nurden Paquita, Debili Najet, Coupry Isabelle, Bryckaert Marijke, Youlyouz-Marfak Ibtissam, Solé Guilhem, Pons Anne-Cécile, Berrou Eliane, Adam Frédéric, Kauskot Alexandre, Lamazière Jean-Marie Daniel, Rameau Philippe, Fergelot Patricia, Rooryck Caroline, Cailley Dorothée, Arveiler Benoît, Lacombe Didier, Vainchenker William, Nurden Alan, Goizet Cyril
Abstract excerpt
Filaminopathies A caused by mutations in the X-linked FLNA gene are responsible for a wide spectrum of rare diseases including 2 main phenotypes, the X-linked dominant form of periventricular nodular heterotopia (FLNA-PVNH) and the otopalatodigital syndrome spectrum of disorders. In platelets, filamin A (FLNa) tethers the principal receptors ensuring the platelet-vessel wall interaction, glycoprotein Ibα and...
Topics
- Aged
- Cells, Cultured
- Contractile Proteins
- Female
- Filamins
- Genetic Predisposition to Disease
- Humans
- Microfilament Proteins
- Middle Aged