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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. Among authors: garcia h. 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.
[Precocious pubarche: experience in 173 cases ].
Eyzaguirre FC, Bancalari R, Youlton R, Román R, Silva R, García H, Mericq V. Eyzaguirre FC, et al. Among authors: garcia h. Rev Med Chil. 2009 Jan;137(1):31-8. Epub 2009 Apr 23. Rev Med Chil. 2009. PMID: 19399319 Free article. Spanish.
Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation.
Aglony M, Martínez-Aguayo A, Carvajal CA, Campino C, García H, Bancalari R, Bolte L, Avalos C, Loureiro C, Trejo P, Brinkmann K, Giadrosich V, Mericq V, Rocha A, Avila A, Perez V, Inostroza A, Fardella CE. Aglony M, et al. Among authors: garcia h. Hypertension. 2011 Jun;57(6):1117-21. doi: 10.1161/HYPERTENSIONAHA.110.168740. Epub 2011 Apr 18. Hypertension. 2011. PMID: 21502562
1,699 results