Oculoauriculovertebral anomaly: variability and causal heterogeneity.
Oculoauriculovertebral anomaly: variability and causal heterogeneity.
复制标题
眼耳椎异常：变异性和因果异质性。
DOI：
10.1002/ajmg.1320310510
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发表时间：
1988
期刊：
影响因子：
--
通讯作者：
Rollnick,BR
中科院分区：
文献类型：
--
作者：
Rollnick,BR
眼耳椎异常是一种复杂的发育领域的缺陷。在最低诊断标准和表型谱上缺乏一致意见。因果异质性已被描述。本报告回顾了表型变异性和因果异质性方面，并讨论了目前的理解缺陷。
The 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.