PRKAR1A and PDE4D mutations 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 and metabolism 2013;97(12):E2328-38