Publication
PRKAR1AandPDE4DMutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance
Agnès Linglart, Helena Fryssira, Olaf Hiort, Paul-Martin Holterhus, Guiomar Perez de Nanclares, Jesús Argente, Claudine Heinrichs, Alma Kuechler, Giovanna Mantovani, Bruno Leheup, Philippe Wicart, Virginie Chassot, Dorothée Schmidt, Óscar Rubio-Cabezas, Annette Richter-Unruh, Sara Berrade, Arrate Pereda, Emese Boros, Maria Teresa Muñoz-Calvo, Marco Castori, Yasemin Gunes, Guylene Bertrand, Pierre Bougnères, Eric Clauser, Caroline Silve
The Journal of Clinical Endocrinology & Metabolism, December 2012, Endocrine Society
DOI: 10.1210/jc.2012-2326