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Dominant-negative effects of Weaver syndrome-associated EZH2 variants.
Summary: Weaver syndrome is a rare condition that causes children to grow very tall and fast, and it can also cause learning delays. Scientists discovered it is caused by a spelling mistake in a gene called EZH2. Everyone has two copies of this gene. In Weaver syndrome, one copy is broken. But this broken copy doesn't just sit there doing nothing—it actually acts like a bully, stopping the healthy copy from doing its normal job! This "bully" effect is called a dominant-negative effect. Understanding how this broken gene messes up the cell's normal tools helps doctors figure out exactly what goes wrong in Weaver syndrome, which could lead to better treatments in the future.
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Syndrome