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Paper Details

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.
Bone
30
2017
24-base-pair deletion, DNA samples, FGFR3, HRAS, HRAS, FGFR3, or PIK3CA gene mutation, KRAS, KRAS Q61H, LEMD3, LEMD3 haploinsufficiency, MEL, Melorheostosis, NM_033360.3, NP, OPK, Osteopoikilosis, PIK3CA gene, autosomal dominant skeletal dysplasia, bony lesions, c.183A, dermatoses, dermatosis, epidermal nevus, hyperostosis, leukocytes, monostotic or polyostotic osteosclerosis, mutated KRAS, osteosclerosis, patient, peripheral blood leukocytes, scleroderma, scleroderma-like dermatosis, scleroderma-like skin, sporadic MEL, sporadic dysostosis
Author NameAffiliation
Malachi GriffithMcDonnell Genome Institute, Washington University School of Medicine, USA Siteman Cancer Center
Lee TraniMcDonnell Genome Institute, Washington University School of Medicine
Kilannin KrysiakMcDonnell Genome Institute, Washington University School of Medicine
Robert LesurfMcDonnell Genome Institute, Washington University School of Medicine
Zachary L SkidmoreMcDonnell Genome Institute, Washington University School of Medicine
Katie M CampbellMcDonnell Genome Institute, Washington University School of Medicine
Obi L GriffithMcDonnell Genome Institute, Washington University School of Medicine, USA Siteman Cancer Center
Elaine R MardisMcDonnell Genome Institute, Washington University School of Medicine, USA Siteman Cancer Center
Elaine R MardisMcDonnell Genome Institute, Washington University School of Medicine, USA Siteman Cancer Center
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