...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Oral diseases >The genetics of isolated orofacial clefts: from genotypes to subphenotypes.
【24h】

The genetics of isolated orofacial clefts: from genotypes to subphenotypes.

机译：孤立的口腔面部裂口的遗传学：从基因型到亚表型。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Orofacial clefts are the most common craniofacial birth defects and one of the most common congenital malformations in humans. They require complex multidisciplinary treatment and are associated with elevated infant mortality and significant lifelong morbidity. The development of craniofacial structures is an exquisitely orchestrated process involving the coordinated growth of multiple, independently derived primordia. Perturbations impacting on the genesis or growth of these primordia may interfere with the proper morphogenesis of facial structures, resulting in clefting of the lip, the primary or secondary palate, or a combination of these sites. A variety of genetic approaches involving both human populations and animal models have greatly facilitated the search for genes involved in human clefting. In this article, we review the most prominent genes for orofacial clefts in the context of developmental pathways that shape the craniofacial complex. We highlight several Mendelian clefting syndromes that have provided valuable clues in identifying genes for the more common, isolated forms of clefting. Finally, we elaborate on a number of potential subclinical features (subphenotypes) associated with what have previously been diagnosed as 'isolated' clefts that may serve as additional markers for identifying individuals or families in whom there may be a greater risk of inheriting a cleft.
机译：口面部裂痕是人类中最常见的颅面部先天缺陷，也是最常见的先天畸形之一。他们需要复杂的多学科治疗，并与婴儿死亡率升高和明显的终身发病率相关。颅面结构的发展是精心策划的过程，涉及多个独立衍生的原基的协调生长。影响这些原基的发生或生长的摄动可能会干扰面部结构的正确形态发生，从而导致唇裂，原发或继发pa裂或这些部位的组合。涉及人类种群和动物模型的多种遗传方法极大地促进了与人类裂口有关的基因的搜索。在本文中，我们在塑造颅面复合体的发育途径的背景下综述了颌面部裂痕最突出的基因。我们着重介绍了几种孟德尔裂隙综合征，它们为鉴定更常见，分离形式的裂隙提供了有价值的线索。最后，我们详细阐述了许多与先前被诊断为“孤立”裂痕相关的潜在亚临床特征（亚表型），这些特征可以用作识别个体或家族中遗传裂痕风险更大的其他标记。

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