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Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26.
Am J Hum Genet. 2015.
PMID: 25728776
Free PMC article.
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G.
Rosin N, et al.
Hum Mol Genet. 2015 Jul 1;24(13):3708-17. doi: 10.1093/hmg/ddv115. Epub 2015 Apr 3.
Hum Mol Genet. 2015.
PMID: 25839420
Free article.
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