期刊论文详细信息
Molecular Syndromology
Considering the Embryopathogenesis of VACTERL Association
R.E. Stevenson1  A.G.W. Hunter1 
[1] Greenwood Genetic Center, Greenwood, S.C., USA
关键词: Embryology;    Embryopathogenesis;    Environmental influences;    Genetics;    Malformations;    VACTERL association;   
DOI  :  10.1159/000346192
学科分类:基础医学
来源: S Karger AG
PDF
【 摘 要 】

The nonrandom co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, genitourinary, and limb malformations, recognized as the VACTERL association, has not been satisfactorily explained from either a causation or embryopathogenesis standpoint. Few familial cases have been identified and maternal diabetes is the only environmental influence implicated to date. Mutations in single genes have been found in a number of syndromes with one or more of the VACTERL malformations, but these syndromes usually have other features which distinguish them from the VACTERL association. Animal models have provided clues to molecular pathways that may be involved in the embryogenesis of the VACTERL structures. What is lacking is the systematic study of individual genes and pathways in well-composed cohorts of patients, which is now possible with high throughput molecular technologies.

【 授权许可】

Unknown   

【 预 览 】
附件列表
Files Size Format View
RO201911300674474ZK.pdf 196KB PDF download
  文献评价指标  
  下载次数:11次 浏览次数:31次