Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.
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Niceta M, et al. Among authors: ferraris a.
Clin Genet. 2018 Mar;93(3):632-639. doi: 10.1111/cge.13128. Epub 2018 Jan 24.
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PMID: 28857138