Article
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
American journal of human genetics - 1 Jul 2003
Brassington Anna-Marie E, Sung Sandy S, Toydemir Reha M, Le Trung, Roeder Amy D, Rutherford Ann E, Whitby Frank G, Jorde Lynn B, Bamshad Michael J
Abstract excerpt
Mutations in TBX5, a T-box-containing transcription factor, cause cardiac and limb malformations in individuals with Holt-Oram syndrome (HOS). Mutations that result in haploinsufficiency of TBX5 are purported to cause cardiac and limb defects of similar severity, whereas missense mutations, depending on their location in the T box, are thought to cause either more severe heart or more severe limb abnormalities....
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