Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

doi:10.1002/humu.9449

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Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

Human mutation - 1 Sept 2006

Borozdin Wiktor, Bravo Ferrer Acosta Ana M, Bamshad Michael J, Botzenhart Elke M, Froster Ursula G, Lemke Johannes, Schinzel Albert, Spranger Stephanie, McGaughran Julie, Wand Dorothea, Chrzanowska Krystyna H, Kohlhase Jürgen

Abstract excerpt

Mutations in the gene TBX5 cause Holt-Oram syndrome (HOS), an autosomal dominant disorder characterized by anterior (i.e., radial ray) upper limb malformations and congenital heart defects and/or cardiac conduction anomalies. The detection rate for TBX5 mutations in HOS patients has been given as...

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Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

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