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Medical Term:

Holt-Oram syndrome

Pronunciation: holt o'ram

Definition: atrial septal defect in association with fingerlike or absent thumb and other deformities of the forearm; autosomal dominant inheritance, caused by mutation in the T-box5 gene (TBX5) on chromosome 12q.

© Copyright 2016 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.