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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Radiologically, it is characterized by the presence of hyperostosis foci at any point in the skeleton, and associated with numerous disorders including Buschke-Ollendorff syndrome, rheumatoid arthritis, scleroderma, ankylosing spondylitis, synovial osteochondromatosis, Klippel-Feil syndrome, cleft palate, Familial Mediterranean fever, endocrine diseases, syndactyly, and melorheostosis.
Deactivating Germline Mutations in LEMD3 Cause Osteopoikilosis and Buschke-Ollendorff Syndrome, but Not Sporadic Melorheostosis.