Variable expressivity in a family with an aggrecanopathy

BACKGROUND: Osteochondritis dissecans is a condition wherein there is a subchondral bone lesion that causes pain, inflammation, and cartilage damage. Dominant Familial Osteochondritis Dissecans is a rare and severe form of osteochondritis dissecans (OCD). It is caused by heterozygous pathogenic vari...

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Detalles Bibliográficos
Autores principales: Denis, Antoine, Chergui, Sami, Basalom, Shuaa, Campeau, Philippe M., Janelle, Chantal, Pauyo, Thierry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801139/
https://www.ncbi.nlm.nih.gov/pubmed/34894100
http://dx.doi.org/10.1002/mgg3.1773

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801139/
https://www.ncbi.nlm.nih.gov/pubmed/34894100
http://dx.doi.org/10.1002/mgg3.1773

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