Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Osteofibrous dysplasia is an autosomal dominant disorder caused by mutations of the MET gene, which is characterized by he presence of a benign, fibro-osseous, osteolytic tumors.
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Karol LA et al. (2005) Familial osteofibrous dysplasia. A case series.
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Gray MJ et al. (2015) Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
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Taylor RM et al. (2012) Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones.
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Orphanet article Orphanet ID 488265
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OMIM.ORG article Omim 607278
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Wikipedia article Wikipedia EN (Osteofibrous_dysplasia)
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