Short stature is a common clinical manifestation in children. Yet, a cause is often unidentifiable in the majority of children with short stature by a routine screening approach. The purpose of this review is to describe the optimal genetic approach for evaluating short stature, challenges of genetic testing, and recent advances in genetic testing for short stature.

中文翻译：

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身材矮小儿童的遗传评估。

身材矮小是儿童常见的临床表现。然而，通过常规筛查方法往往无法确定大多数身材矮小的儿童的病因。本综述的目的是描述评估身材矮小的最佳遗传方法、基因检测的挑战以及矮身材基因检测的最新进展。