MAN1 rabbit pAb

disease:Defects in LEMD3 are a cause of melorheostosis [MIM:155950]. Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur.,disease:Defects in LEMD3 are the cause of Buschke-Ollendorff syndrome (BOS) [MIM:166700]; also known as dermatoosteopoikilosis or disseminated dermatofibrosis with osteopoikilosis or dermatofibrosis lenticularis disseminata with osteopoikilosis or osteopathia condensans disseminata. BOS refers to the association of osteopoikilosis with disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Both elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both.,similarity:Contains 1 LEM domain.,tissue specificity:Heart, brain, placenta, lung, liver and skeletal muscle.,