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Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
de Nanclares GP, Fernández-Rebollo E, Santin I, García-Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M. de Nanclares GP, et al. Among authors: ahrens w. J Clin Endocrinol Metab. 2007 Jun;92(6):2370-3. doi: 10.1210/jc.2006-2287. Epub 2007 Apr 3. J Clin Endocrinol Metab. 2007. PMID: 17405843
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.
Kremke B, Bergwitz C, Ahrens W, Schütt S, Schumacher M, Wagner V, Holterhus PM, Jüppner H, Hiort O. Kremke B, et al. Among authors: ahrens w. Exp Clin Endocrinol Diabetes. 2009 Feb;117(2):49-56. doi: 10.1055/s-2008-1076716. Epub 2008 Jun 3. Exp Clin Endocrinol Diabetes. 2009. PMID: 18523928 Free PMC article.
582 results