Titre:
  • PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance
Auteur:Linglart, Agnès; Fryssira, Helena; Hiort, Olaf; Holterhus, Paul Martin; Perez De Nanclares, Guiomar; Argente, Jesús; Heinrichs, Claudine; Kuechler, Alma; Mantovani, Giovanna; Leheup, Bruno; Wicart, Philippe; Chassot, Virginie; Schmidt, Dorothée; Rubio-Cabezas, Óscar O.; Richter-Unruh, Annette; Berrade, Sara; Pereda, Arrate; Boros, EMESE; Muñoz-Calvo, Maria Teresa; Castori, Marco; Gunes, Yasemin; Bertrand, Guylene; Bougneres, Pierre; Clauser, Eric; Silve, Caroline
Informations sur la publication:The Journal of clinical endocrinology and metabolism, 97, 12, page (E2328-E2338)
Statut de publication:Publié, 2012-12
Sujet CREF:Biochimie
Médecine clinique [chimie clinique]
Endocrinologie
Métabolisme
Diabétologie
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0021-972X
info:doi/10.1210/jc.2012-2326
info:scp/84870743491
info:pmid/23043190