학술논문
PLS3 mutations in x-linked osteoporosis with fractures
plastin 3
plastin 3
Document Type
Report
Author
van Dijk, Fleur S.; Harsevoort, Arjan J.; Franken, Anton A.; Milbradt, Janine; de Die-Smulders, Christine E.; Marcelis, Carlo L.M.; Micha, Dimitra; Riessland, Markus; Zillikens, M. Carola; Lichtenbelt, Klaske D.; Pruijs, Hans E.; Semeins, Cor M.; Bijman, Renate; Hammerschmidt, Matthias; Egthuijsen, Jaqueline; Moutaouakil, Youssef; Zwertbroek, Rolf; Rubio-Gozalbo, M. Estela; Everts, Vincent; Bakker, Astrid D.; Klein-Nulend, Jenneke; Wirth, Brunhilde; Meijers-Heijboer, Hanne; Waisfisz, Quinten; Sistermans, Erik A.; Maugeri, Alessandra; Uitterlinden, Andre G.; Verkerk, Annemieke J.M.H.; te Meerman, Gerard J.; Hofman, Albert; Campos-Obando, Natalia; Pals, Gerard; Simon, Marleen E.H.
Source
The New England Journal of Medicine. Oct 17, 2013, Vol. 369 Issue 16, p1529, 8 p.
Subject
Language
English
ISSN
0028-4793
Abstract
The association between plastin 3 (PLS3) mutations in x-linked osteoporosis and fractures is discussed. Diagnostic analysis of PLS3 in boys and men who have clinical or radiologic signs of an inherited bone disorder and early-onset osteoporosis is highlighted.