| 1 | NEK1, SRPS2
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| Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
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| Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, Nishimura G, Nordgren A, Miyake N, Tham E, Grigelioniene G, Ikegawa S.
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| J Hum Genet. Apr;62(4):503-506. doi: 10.1038/jhg.2016.157. Epub 2017 Jan 26. 2017
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| 2 | DYNC2H1, NEK1, SRPS2, SRPS3A
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| NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
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| 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.
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| J Med Genet 49(4):227-33. 2012
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| 3 | NEK1, SRPS2
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| NEK1 mutations cause short-rib polydactyly syndrome type majewski.
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| Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stöss H, Beinder E, Abou Jamra R, Ekici AB, Schröder-Kress N, Aigner T, Kirchner T, Reis A, Brandstätter JH, Rauch A.
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| Am J Hum Genet 88(1):106-14.PMID: 21211617 2011
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| 4 | NEK1, SRPS2
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| NEK1 mutations cause short-rib polydactyly syndrome type majewski.
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| Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stöss H, Beinder E, Abou Jamra R, Ekici AB, Schröder-Kress N, Aigner T, Kirchner T, Reis A, Brandstätter JH, Rauch A.
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| Am J Hum Genet 88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004.
2011
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