Anlaysis of the genetic defect in mel...
Project: Anlaysis of the genetic defect in melorheostosis and the study of the molecular and biological effects of LEMD3 haploinsufficiency
01-OCT-07 – 30-SEP-10
- 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.