• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Case Reports in Genetics >Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with aDe Novo16p13.3 Interstitial Deletion
【24h】

Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with aDe Novo16p13.3 Interstitial Deletion

机译：小儿双侧径Syn骨突触和椎骨异常与aDe Novo16p13.3间质性删除。

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have ade novodeletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes areE4F1, DNASE1L2, ECI1, RNPS1, andABCA3; miRNAs are MIR3677, MIR940, and MIR4717. The specific deletion has never been previously reported. We describe the phenotype of the boy and review the genes in the deleted region. None of the regulatory elements have any known linkage to skeletal formation and/or maintenance. We believe this deletion is causative given that it wasde novoand that this patient cannot be easily explained as having any other specific recognizable pattern of human malformation.
机译：我们描述了一个8岁的男孩，他的发育迟缓，临床上的双侧syn尺骨突触，Klippel-Feil异常以及其他椎骨畸形在16p13.3时发现了114.5kb的novodeletletion。缺失包含五个基因和三个miRNA。这些基因是E4F1，DNASE1L2，ECI1，RNPS1和ABCA3; miRNA是MIR3677，MIR940和MIR4717。以前从未报告过具体的删除。我们描述了男孩的表型，并审查了删除区域中的基因。调节元件均没有与骨骼形成和/或维持的任何已知联系。我们认为这种删除是有原因的，因为这是从头开始的，并且该患者不能轻易地解释为具有人类畸形的任何其他特定的可识别模式。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号