A New Mutation in the TBX5 Gene in Holt-Oram Syndrome: Two Cases in the Same Family and Prenatal Diagnosis

In conclusion, our case supports the fact that the HOS presents differently, case by case, even within the same family. The novel mutation reported here and phenotypic findings in the affected members may contribute to the phenotype–genotype correlation.

Source: Journal of Tropical Pediatrics - June 2, 2014 Category: Tropical Medicine Authors: Atik, T., Dervisoglu, H., Onay, H., Ozkinay, F., Cogulu, O. Tags: Case Reports Source Type: research