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LEMD3 and Osteopoikilosis, the Buschke-Ollendorff Syndrome and Melorheostosis 

LEMD3 and Osteopoikilosis, the Buschke-Ollendorff Syndrome and Melorheostosis
Chapter:
LEMD3 and Osteopoikilosis, the Buschke-Ollendorff Syndrome and Melorheostosis
Author(s):

Jan Hellemans

and Geert R. Mortier

DOI:
10.1093/med/9780199934522.003.0052
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date: 04 March 2021

Osteopoikilosis (MIM 166700), Buschke–Ollendorff syndrome (BOS, MIM 166700), and melorheostosis (MIM 155950) are rare sclerosing bone dysplasias that can co-occur within the same family. They are due to mutations in LEMD3 which codes for an integral protein of the inner nuclear membrane which inhibits the BMP and TGF-β‎ signalling pathways.

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