Article
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
Pediatric research - 1 Nov 2005
McDermott Deborah A, Bressan Michael C, He Jie, Lee Joseph S, Aftimos Salim, Brueckner Martina, Gilbert Fred, Graham Gail E, Hannibal Mark C, Innis Jeffrey W, Pierpont Mary Ella, Raas-Rothschild Annick, Shanske Alan L, Smith Wendy E, Spencer Robert H, St John-Sutton Martin G, van Maldergem Lionel, Waggoner Darrel J, Weber Matthew, Basson Craig T
Abstract excerpt
Holt-Oram syndrome (HOS) is an autosomal dominant heart-hand syndrome characterized by congenital heart disease (CHD) and upper limb deformity, and caused by mutations in the TBX5 gene. To date, the sensitivity of TBX5 genetic testing for HOS has been unclear. We now report mutational analyses of a nongenetically selected population of 54 unrelated individuals who were consecutively referred to our center with a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.