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The primary interests of Huang Lab are in the molecular
basis of genetic diseases in humans. Currently, the Lab
is focusing on Holt-Oram syndrome (HOS, Heart-Hand syndrome),
an autosomal dominant condition with congenital cardiac defects
and forelimb anomalies. This condition is caused by mutation of
TBX5. We are employing clinical and basic research approaches to
understand the intracellular pathway of TBX5, molecular basis of
phenotypic variations and its gene regulation.
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