The etiology of VACTERL association: Current knowledge and hypotheses

被引：40

作者：

Solomon, Benjamin D. ^{[1
]}

机构：

[1] GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2018年 / 178卷 / 04期

关键词：

VACTERL; VACTERL association; VATER; VATER association; VATER-ASSOCIATION; TRACHEOESOPHAGEAL FISTULA; CONGENITAL-MALFORMATIONS; ESOPHAGEAL ATRESIA; VERTEBRAL DEFECTS; FANCONI-ANEMIA; ANAL ATRESIA; ANOMALIES; VATER/VACTERL; IDENTIFICATION;

D O I：

10.1002/ajmg.c.31664

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

VACTERL association is a condition involving the presence of multiple congenital anomalies. The condition was first described more than four decades ago, and is not extremely rare. However, relatively little is understood about the causes and underlying biology of the condition as a whole. There are many reasons for this, but there is increasing recognition that VACTERL is extremely clinically as well as etiologically heterogeneous, and this heterogeneity--as well as other hypothesized factors--have caused challenges to identifying the causes for a substantial proportion of patients. Current knowledge about the causes of this condition (or group of conditions) are described, followed by a discussion of possibilities that may reveal more answers for patients as well as researchers and clinicians who work related to this disorder.

引用

页码：440 / 446

页数：7

共 65 条

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