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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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| Publicado no: | Ann N Y Acad Sci |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7921208/ https://ncbi.nlm.nih.gov/pubmed/32880985 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/nyas.14465 |
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