Article
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.
Nature genetics - 1 Jan 1997
Basson C T, Bachinsky D R, Lin R C, Levi T, Elkins J A, Soults J, Grayzel D, Kroumpouzou E, Traill T A, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman J G, Seidman C E
Abstract excerpt
Holt-Oram syndrome is characterized by upper limb malformations and cardiac septation defects. Here, we demonstrate that mutations in the human TBX5 gene underlie this disorder. TBX5 was cloned from the disease locus on human chromosome 12q24.1 and identified as a member of the T-box transcriptio...
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