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FLNBA gene on chromosome 3p14.3 that encodes filamin B, an actin-binding protein which interacts with glycoprotein Ib alpha during the repair of vascular injuries. FLNB interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate.
Defects in FLNB cause:
• Atelosteogenesis types 1 and 3;
• Larsen syndrome (autosomal dominant);
• Boomerang dysplasia; and
• Spondylocarpotarsal synostosis syndrome.
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