The etiology of VACTERL association: Current knowledge and hypotheses

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...

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Published inAmerican journal of medical genetics. Part C, Seminars in medical genetics Vol. 178; no. 4; pp. 440 - 446
Main Author Solomon, Benjamin D.
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.12.2018
Wiley Subscription Services, Inc
Subjects
Congenital anomalies
Congenital defects
Etiology
Genetics
Heterogeneity
Patients
VACTERL
VACTERL association
VATER
VATER association
VACTERL
VATER association
VATER
VACTERL association
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Summary: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.
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ISSN:1552-4868
1552-4876
DOI:10.1002/ajmg.c.31664