Article
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.
Bone - 1 Aug 2017
Whyte Michael P, Griffith Malachi, Trani Lee, Mumm Steven, Gottesman Gary S, McAlister William H, Krysiak Kilannin, Lesurf Robert, Skidmore Zachary L, Campbell Katie M, Rosman Ilana S, Bayliss Susan, Bijanki Vinieth N, Nenninger Angela, Van Tine Brian A, Griffith Obi L, Mardis Elaine R
Abstract excerpt
Melorheostosis (MEL) is the rare sporadic dysostosis characterized by monostotic or polyostotic osteosclerosis and hyperostosis often distributed in a sclerotomal pattern. The prevailing hypothesis for MEL invokes postzygotic mosaicism. Sometimes scleroderma-like skin changes, considered a representation of the pathogenetic process of MEL, overlie the bony changes, and sometimes MEL becomes malignant....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.