论文部分内容阅读
本文报道一例Waardenburg综合征患者,结合文献对Waardenburg综合征的临床表现、分型、遗传学特征及分子遗传学研究进展进行简要讨论。
This article reports a case of Waardenburg syndrome patients, combined with the literature Waardenburg syndrome clinical manifestations, typing, genetic characteristics and molecular genetics research progress briefly discussed.