Associated Papers
Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects.
Qiu H et al.
Scientific Reports, 2022
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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