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References

1. Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V. DYNC2H1 mutations cause asphyxiating thoracicdystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009May;84(5):706-11. doi: 10.1016/j.ajhg.2009.04.016.
2. El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP,Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M,Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V. NEK1 and DYNC2H1 are bothinvolved in short rib polydactyly Majewski type but not in Beemer Langer cases. JMed Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717.
3. 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. Ciliary abnormalities due to defects in the retrogradetransport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet. 2009Apr;84(4):542-9. doi: 10.1016/j.ajhg.2009.03.015.
4. Okamoto T, Nagaya K, Kawata Y, Asai H, Tsuchida E, Nohara F, Okajima K, Azuma H. Novel compound heterozygous mutations in DYNC2H1 in a patient with severeshort-rib polydactyly syndrome type III phenotype. Congenit Anom (Kyoto). 2015Aug;55(3):155-7. doi: 10.1111/cga.12098.
5. Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD,Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E,Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ,Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K, KnoersNV, Roepman R, Mitchison HM. Exome sequencing identifies DYNC2H1 mutations as acommon cause of asphyxiating thoracic dystrophy (Jeune syndrome) without majorpolydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5):309-23.doi: 10.1136/jmedgenet-2012-101284.