Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal d...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Bowen, Margot E., Boyden, Eric D., Holm, Ingrid A., Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Andrea, Ikegawa, Shiro, Cormier-Daire, Valerie, Bovée, Judith V., Pansuriya, Twinkal C., de Sousa, Sérgio B., Savarirayan, Ravi, Andreucci, Elena, Vikkula, Miikka, Garavelli, Livia, Pottinger, Caroline, Ogino, Toshihiko, Sakai, Akinori, Regazzoni, Bianca M., Wuyts, Wim, Sangiorgi, Luca, Pedrini, Elena, Zhu, Mei, Kozakewich, Harry P., Kasser, James R., Seidman, Jon G., Kurek, Kyle C., Warman, Matthew L.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2011
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3077396/
https://ncbi.nlm.nih.gov/pubmed/21533187
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002050
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars