骨骼发育异常中的基因异质性。

Ann Clin Lab Sci. 1975 Nov-Dec;5(6):435-9.

Certain skeletal dysplasias represent excellent examples of genetic heterogeneity. Clinical recognition of their individual characteristics is a fundamental prerequisite for an understanding of their pathogenetic mechanisms and for the identification of their basic molecular defects.

某些骨骼发育异常是遗传异质性的典型例子。临床识别其个体特征是理解其发病机制和确定其基本分子缺陷的基本前提。