Melorheostosis: Exome Sequencing Of An Associated Dermatosis Implicates Postzygotic Mosaicism Of Mutated KRAS

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 represent...

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Udgivet i:Bone
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5518630/
https://ncbi.nlm.nih.gov/pubmed/28434888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2017.04.010
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