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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.

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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