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Title: Fibrodysplasia ossificans progressiva: still turning into wood after 300 years?
Authors: Buyse, Gunnar ×
Silberstein, J
Goemans, N
Casaer, Paul #
Issue Date: Sep-1995
Series Title: European Journal of Pediatrics vol:154 issue:9 pages:694-9
Abstract: Fibrodysplasia ossificans progressiva (FOP), a rare autosomal dominant disorder, is characterized by symmetrical congenital skeletal abnormalities and progressive heterotopic ossification of the connective tissues. At present, more than 300 years after the first report by Patin in 1648 in which he described the woman who "turned to wood", its pathogenesis remains largely unknown and its therapy is limited to symptom-modifying trials. However, significant progress has been recently made and new data on the molecular organization and regulation of normal and disordered bone induction are likely to lead to a more specific therapy. FOP is believed to be a genetic disorder characterized by a disturbed expression of the endochondral osteogenesis programme, and the remarkable "clues from the fly" reported by Kaplan et al. [8] in 1990 suggest a gain-of-function mutation in the genetic regulation of bone morphogenetic proteins.
ISSN: 0340-6199
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
Brain & Metabolism Section (-)
× corresponding author
# (joint) last author

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