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An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
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. de Bruin C, et al. J Clin Endocrinol Metab. 2015 May;100(5):E789-98. doi: 10.1210/jc.2015-1098. Epub 2015 Mar 5. J Clin Endocrinol Metab. 2015. PMID: 25742519 Free PMC article.
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