Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins

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, and LTBP3) that encode secreted extra...

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Bibliographic Details
Main Authors:	Balic, Z. (Author), Hubmacher, D. (Author), Stanley, S. (Author)
Format:	Article
Language:	English
Published:	Blackwell Publishing Inc. 2021
Subjects:	acromelic dysplasia ADAMTS adamts like 2 protein adamts10 protein adamts17 protein animal Animals Article biological functions Bone Diseases, Developmental bone dysplasia conceptual model congenital skin disease connective tissue connective tissue disease Cryptorchidism cryptorchism disease model Disease Models, Animal dwarfism Dwarfism dysplasia extracellular matrix facies Facies fiber fibrillin fibrillin 1 Fibrillins geleophysic dysplasia genetics growth disorder Growth Disorders Hand Deformities, Congenital hand malformation human Humans Intellectual Disability intellectual impairment joint Joints knockout mouse Limb Deformities, Congenital limb malformation ltbp2 protein ltbp3 protein metabolism Mice Mice, Knockout Microfibrils mouse mouse model Musculoskeletal Abnormalities musculoskeletal disease musculoskeletal system musculoskeletal system malformation myhre syndrome nonhuman pathology protein protein function protein interaction protein structure regulatory mechanism scleroprotein Skin Abnormalities Smad4 protein Smad4 Protein transforming growth factor beta Transforming Growth Factor beta unclassified drug Weill Marchesani syndrome Weill–Marchesani syndrome Weill-Marchesani Syndrome
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Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins

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