Associated Papers
Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.
Zhang X et al.
Molecular Genetics & Genomic Medicine, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.
Niceta M et al.
Clinical Genetics, 2018
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
Kessler K et al.
Scientific Reports, 2015
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