Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome

BACKGROUND: Among the several musculoskeletal manifestations in patients with Marfan syndrome, spinal deformity causes pain and respiratory impairment and is a great hindrance to patients’ daily activities. The present study elucidates the genetic risk factors for the development of severe scoliosis...

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Detalles Bibliográficos
Autores principales: Taniguchi, Yuki, Takeda, Norifumi, Inuzuka, Ryo, Matsubayashi, Yoshitaka, Kato, So, Doi, Toru, Yagi, Hiroki, Yamauchi, Haruo, Ando, Masahiko, Oshima, Yasushi, Tanaka, Sakae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811093/
https://www.ncbi.nlm.nih.gov/pubmed/34916231
http://dx.doi.org/10.1136/jmedgenet-2021-108186

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811093/
https://www.ncbi.nlm.nih.gov/pubmed/34916231
http://dx.doi.org/10.1136/jmedgenet-2021-108186

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