首页> 外文期刊>American journal of medical genetics, Part A >Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association
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Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association

机译:LPP拷贝数和序列变化对食管闭锁,气管食管瘘和VACTERL关联的贡献

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摘要

Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are common life-threatening birth defects that affect approximately 1 in 3,500 births [Shaw-Smith, 2006]. Approximately 10% of individuals with EA/TEF also meet criteria for VACTERL association which requires the presence of three or more of the following non-randomly associated birth defects: Vertebral anomalies, Anal anomalies, Cardiac defects, TracheoEsophageal fistula and/or esophageal atresia, Renal anomalies and Limb defects [Chittmittrapap et al., 1989]. The genetic factors that contribute to the development of most cases of TEF and VACTERL association have yet to be identified.
机译:食管闭锁(EA)和气管食管瘘(TEF)是常见的威胁生命的先天性缺陷,大约影响3500名婴儿中的1名[Shaw-Smith,2006]。大约有10%的EA / TEF患者也符合VACTERL关联标准,该标准要求存在以下三个或更多个非随机相关的出生缺陷:椎骨异常,肛门异常,心脏缺陷,气管食管瘘和/或食管闭锁,肾脏异常和肢体缺损[Chittmittrapap等,1989]。导致大多数TEF和VACTERL关联病例发展的遗传因素尚未确定。

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