A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations

BACKGROUND: Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder affecting the cardiovascular, skeletal, and ophthalmic systems. This report aimed to describe a novel genetic background and treatment prognosis of MFS. CASE PRESENTATION: A proband was initially diagnosed with...

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Detalles Bibliográficos
Autores principales: Lin, Jiansheng, Lin, Yanyu, Wang, Gaoxiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10225074/
https://www.ncbi.nlm.nih.gov/pubmed/37245000
http://dx.doi.org/10.1186/s12920-023-01551-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10225074/
https://www.ncbi.nlm.nih.gov/pubmed/37245000
http://dx.doi.org/10.1186/s12920-023-01551-6

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