Holt-Oram syndrome is caused by TBX5 gene mutation. This condition is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. The TBX5 gene mutation can be confirmed through molecular genetic testing. A case report of Holt-Oram syndrome is represented when mother has been taking a Depakine (valproic acid) during pregnancy.
|Journal||International journal of advances in case reports|
|Publication status||Published - 2015|