From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis

Recently, loss-of-function mutations in PTPN11 were linked to the cartilage tumor syndrome metachondromatosis (MC), a rare inherited disorder featuring osteochondromas, endochondromas and skeletal deformation. However, the underlying molecular and cellular mechanism for MC remained incompletely unde...

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Detalles Bibliográficos
Autores principales: Yang, Wentian, Neel, Benjamin G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Landes Bioscience 2013
Materias:
Addendum
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927490/
https://www.ncbi.nlm.nih.gov/pubmed/25003010
http://dx.doi.org/10.4161/rdis.26657

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927490/
https://www.ncbi.nlm.nih.gov/pubmed/25003010
http://dx.doi.org/10.4161/rdis.26657

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