Whole ‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy
ConclusionOur results expand the mutational spectrum ofDYNC2LI1 in severe skeletal ciliopathies. WES facilitates the accurate prenatal diagnosis of fetal skeletal ciliopathy, and provides helpful information for genetic counseling.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Xinyue Zhang,
Yanqin You,
Xiaoxiao Xie,
Hong Xu,
Honghui Zhou,
Yuanmei Lei,
Pei Sun,
Yuanguang Meng,
Longxia Wang,
Yanping Lu Tags: ORIGINAL ARTICLE Source Type: research