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: Tags: ORIGINAL ARTICLE Source Type: research
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