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Project: Anlaysis of the genetic defect in melorheostosis and the study of the molecular and biological effects of LEMD3 haploinsufficiency

project duration
01-OCT-07 – 30-SEP-10
abstract
In 2004, we demonstrated that loss-of-function mutations in LEMD3 can lead to osteopoikilosis, the Buschke-Ollendorff syndrome (BOS) and non-sporadic melorheostosis. This project aims 1) to identify the causal genetic defect in sporadic melorheostosis though a candidate gene approach, and 2) to study the biological effects of LEMD3 haploinsufficiency and the pathways that lead to the hyperostotic lesions in these skeletal dysplasias.