Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

In this study, we described the clinical, radiological and molecular findings of 19 individuals with MEL and 8 with OPK and compared the results to the medical literature. The molecular analyses of this case series corroborate the available data in the medical literature, indicating thatLEMD3 germline mutations are not a major cause of isolated MEL and reporting five further cases of OPK caused byLEMD3 germline mutations.
Source: Calcified Tissue International - Category: Orthopaedics Source Type: research