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[Statistical analysis of 47 cases with Holt-Qram syndrome]
1Department of Cardiothoracic Surgery, Second Xiangya Hospital, Central South University, Changsha 410011, China.
Hunan Yi Ke Da Xue Xue Bao = Hunan Yike Daxue Xuebao = Bulletin of Hunan Medical University
|January 23, 2003
Abstract:
By statistical analysis of 47 cases with Holt-Qram syndrome(HOS), we found that the severity of the upper limb abnormalities and cardiac defects in HOS varied significantly with different individuals. The variations of appearance were related with the types and positions of mutatons of TBX5 gene which could damage the gene function and cause HOS. It is suggested that the genetic heterogeneity in HOS may be caused by the mutations of different genes.