Associated Papers
Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.
Zhang X et al.
Molecular Genetics & Genomic Medicine, 2020
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.
Niceta M et al.
Clinical Genetics, 2018
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
Taylor SP et al.
Nature Communications, 2015
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