diaphyseal dysplasia

Camurati-Engelmann disease

A rare autosomal dominant disorder (OMIM:131300) characterised by hyperostosis and sclerosis of the diaphyses of long bones, which usually presents in early childhood with pain, muscular weakness and waddling gait, variably accompanied by exophthalmos, facial paralysis, hearing loss and loss of vision.

Molecular pathology
Caued by defects of TGFB1, which encodes a transforming growth factor beta-type cytokine that up- and downregulates proliferation, differentiation, adhesion, migration, apoptosis and other functions.

单词	diaphyseal dysplasia
释义	DictionarySeediaphysealEncyclopediaSeedysplasia diaphyseal dysplasia Camurati-Engelmann disease A rare autosomal dominant disorder (OMIM:131300) characterised by hyperostosis and sclerosis of the diaphyses of long bones, which usually presents in early childhood with pain, muscular weakness and waddling gait, variably accompanied by exophthalmos, facial paralysis, hearing loss and loss of vision. Molecular pathology Caued by defects of TGFB1, which encodes a transforming growth factor beta-type cytokine that up- and downregulates proliferation, differentiation, adhesion, migration, apoptosis and other functions.
随便看	extra neutral alcohol extranodal extranodal lymphoma extranodal lymphomas extranodal marginal zone b cell lymphoma extranodal marginal zone lymphoma extranodal nk-/t-cell lymphoma extranodal nk-/t-cell lymphoma nasal type extranodal recurrence extranormal phonetics extranuclear extranuclear inheritance extra-ocular extraocular extraocular m extra ocular movement intact extraocular movements intact extraocular m's extra-ocular muscle extraocular muscle extraocular muscle balance extraocular muscle myosin heavy chain extraocular muscles extra ocular muscles intact extraocular myosin heavy chain