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Oculoauriculovertebral anomaly: Variability and causal heterogeneity

 

作者: B. R. Rollnick,   John M. Opitz,   James F. Reynolds,   Robert J. Gorlin,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1988）
卷期: Volume 31, issue S4  

页码: 41-53

 

ISSN:0148-7299

 

年代: 1988

 

DOI:10.1002/ajmg.1320310510

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: oculoauriculovertebral dysplasia;hemifacial microsomia;Goldenhar anomaly;phenotypic variability

 

数据来源: WILEY

 

摘要:

AbstractThe oculoauriculovertebral anomaly is a complex developmental field defect. There is lack of agreement on the minimal diagnostic criteria and the phenotypic spectrum. Causal heterogeneity has been described. This report reviews aspects of phenotypic variability and causal heterogeneity and discusses current understanding of the defect.

 

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