Cargando…
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...
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: | |
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 |
Ejemplares similares
-
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases
por: Gibson, Beth G., et al.
Publicado: (2016) -
Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature
por: Basalom, Shuaa, et al.
Publicado: (2021) -
No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B
por: Ibrahim, Iman, et al.
Publicado: (2023) -
Dyssegmental dysplasia, Silverman‐Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy
por: Basalom, Shuaa, et al.
Publicado: (2018) -
Can a Knee Brace Prevent ACL Reinjury: A Systematic Review
por: Marois, Bianca, et al.
Publicado: (2021)