Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.

Xinyue ZhangYanqin YouXiaoxiao XieHong XuHonghui ZhouYuanmei LeiPei SunYuanguang MengLongxia WangYanping Lu

Published in: Molecular genetics & genomic medicine (2020)

Our results expand the mutational spectrum of DYNC2LI1 in severe skeletal ciliopathies. WES facilitates the accurate prenatal diagnosis of fetal skeletal ciliopathy, and provides helpful information for genetic counseling.

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