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Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.
Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, Motte E, Pinto G, Chanson P, Bougnères P, Clauser E, Silve C. Linglart A, et al. Among authors: silve c. N Engl J Med. 2011 Jun 9;364(23):2218-26. doi: 10.1056/NEJMoa1012717. N Engl J Med. 2011. PMID: 21651393 Free article.
Acrodysostosis.
Silve C, Clauser E, Linglart A. Silve C, et al. Horm Metab Res. 2012 Sep;44(10):749-58. doi: 10.1055/s-0032-1316330. Epub 2012 Jul 19. Horm Metab Res. 2012. PMID: 22815067 Review.
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C. Linglart A, et al. Among authors: silve c. J Clin Endocrinol Metab. 2012 Dec;97(12):E2328-38. doi: 10.1210/jc.2012-2326. Epub 2012 Oct 5. J Clin Endocrinol Metab. 2012. PMID: 23043190 Clinical Trial.
Acrodysostosis syndromes.
Silve C, Le-Stunff C, Motte E, Gunes Y, Linglart A, Clauser E. Silve C, et al. Bonekey Rep. 2012 Nov 21;1:225. doi: 10.1038/bonekey.2012.225. Bonekey Rep. 2012. PMID: 24363928 Free PMC article. Review.
113 results