Familial Early-Onset Paget ’s Disease of Bone Associated with a Novel hnRNPA2B1 Mutation

We describe here a novel missense mutation inhnRNPA2B1 gene in a large pedigree affected with PDB with members who do not present other manifestations of multisystem proteinopathy, such as IBM, FTD, and ALS.

http://link.springer.com/10.1007/s00223-017-0269-0

Source: Calcified Tissue International - April 7, 2017 Category: Orthopaedics Source Type: research