Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.
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DOI: 10.1016/j.bone.2017.04.010
Abstract: 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… read more here.
Keywords: implicates postzygotic; exome sequencing; mosaicism; postzygotic mosaicism ... See more keywords