© Copyright 2001—2022 Melorheostosis Association. All rights reserved.
Somatic activating mutations in MAP2K1 cause melorheostosis
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
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