Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan

The cartilage aggrecan proteoglycan is crucial for both skeletal growth and articular cartilage function. A number of aggrecan (ACAN) gene variants have been linked to skeletal disorders, ranging from short stature to severe chondrodyplasias. Osteochondritis dissecans is a disorder where articular c...

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Detalles Bibliográficos
Autores principales: Stattin, Eva-Lena, Lindblom, Karin, Struglics, André, Önnerfjord, Patrik, Goldblatt, Jack, Dixit, Abhijit, Sarkar, Ajoy, Randell, Tabitha, Suri, Mohnish, Raggio, Cathleen, Davis, Jessica, Carter, Erin, Aspberg, Anders
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8956744/
https://www.ncbi.nlm.nih.gov/pubmed/35338222
http://dx.doi.org/10.1038/s41598-022-09211-y

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