1 | MOPD5, XRCC4
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| Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism.
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| Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS.
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| Am J Hum Genet 96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26.
2015
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2 | MOPD5, XRCC4
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| An XRCC4 splice mutation is associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
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| de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A.
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| J Clin Endocrinol Metab Clin Endocrinol Metab. 2015 Mar 5:jc20151098. [Epub ahead of print]
2015
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3 | MOPD5, XRCC4
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| An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
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| de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A.
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| J Clin Endocrinol Metab 100(5):E789-98. doi: 10.1210/jc.2015-1098. Epub 2015 Mar 5.
2015
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4 | MOPD5, XRCC4
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| Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
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| Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G.
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| Hum Mol Genet 24(13):3708-17. doi: 10.1093/hmg/ddv115. Epub 2015 Apr 3.
2015
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