Article
Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.
American journal of medical genetics. Part A - 1 Feb 2014
Peterson Jess F, Ghaloul-Gonzalez Lina, Madan-Khetarpal Suneeta, Hartman Jessica, Surti Urvashi, Rajkovic Aleksandar, Yatsenko Svetlana A
Abstract excerpt
Congenital clubfoot is a heterogeneous disorder that can result in functional disability, deformity, and pain if left untreated. Although the etiology is considered multifactorial in the majority of cases, a 17q23.1–q23.2 duplication has been reported in families with congenital clubfoot characterized by variable expressivity and incomplete penetrance. The candidate gene within the duplicated region is TBX4, a...
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