Holt-Oram syndrome: A case report
Holt-Oram syndrome is clinically characterized by morphological abnormalities of the upper limbs and congenital cardiac defects. Although the disease is congenital, the diagnosis may only be made later in life. It is a rare autosomal dominant disorder, caused by a mutation in the TBX5 gene located o...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2014-11-01
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| Series: | Revista Portuguesa de Cardiologia |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0870255114002571 |