FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function

Mutations in FLNA, which encodes the cytoskeletal protein FLNA, cause a spectrum of sclerosing skeletal dysplasias. Although many of these genetic variants are recurrent and cluster within the gene, the pathogenic mechanism that underpins the development of these skeletal phenotypes is unknown. To d...

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Detalles Bibliográficos
Autores principales: Wade, Emma M., Goodin, Elizabeth A., Wang, Yongqiang, Morgan, Tim, Callon, Karen E., Watson, Maureen, Daniel, Philip B., Cornish, Jillian, McCulloch, Christopher A., Robertson, Stephen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Full Length Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9995945/
https://www.ncbi.nlm.nih.gov/pubmed/36909664
http://dx.doi.org/10.1016/j.bonr.2023.101668

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