Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
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Piceci-Sparascio F, et al. Among authors: frustaci e.
Eur J Hum Genet. 2023 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4.
Eur J Hum Genet. 2023.
PMID: 36599940
Free PMC article.