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Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. Merrill AE, et al. Among authors: priore ma. Am J Hum Genet. 2009 Apr;84(4):542-9. doi: 10.1016/j.ajhg.2009.03.015. Am J Hum Genet. 2009. PMID: 19361615 Free PMC article.