Article
Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.
American journal of medical genetics. Part A - 1 Jul 2012
Lu W, Bacino C A, Richards B S, Alvarez C, VanderMeer J E, Vella M, Ahituv N, Sikka N, Dietz F R, Blanton S H, Hecht J T
Abstract excerpt
Clubfoot is a common birth defect characterized by inward posturing and rigid downward displacement of one or both feet. The etiology of syndromic forms of clubfoot is varied and the causes of isolated clubfoot are not well understood. A microduplication of 2.2 Mb on chromosome 17q23.1q23.2 which includes T-box 4 (TBX4), a hindlimb-specific gene, and 16 other genes was recently identified in 3 of 66 families...
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