Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins
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DOI: 10.1111/nyas.14465
Abstract: Acromelic dysplasias are a group of rare musculoskeletal disorders that collectively present with short stature, pseudomuscular build, stiff joints, and tight skin. Acromelic dysplasias are caused by mutations in genes (FBN1, ADAMTSL2, ADAMTS10, ADAMTS17, LTBP2,… read more here.
Keywords: matrix proteins; extracellular matrix; rare musculoskeletal; musculoskeletal disorders ... See more keywords