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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Pubblicato in:Bone
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2017
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Article
Accesso online: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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