A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome

Neonatal Marfan syndrome (nMFS) is a rare and severe form of Marfan syndrome (MFS) with a poor prognosis, that presents with a highly variable phenotype, particularly regarding skeletal, ocular, and cardiovascular manifestations. Mutations in the fibrillin-1 (FBN1) gene are known as the principal ca...

Descripción completa

Detalles Bibliográficos
Autores principales: Elgaz, Sümeyye, Wittekindt, Boris, Esmaeili, Anoosh, Fischer, Sebastian, Bolz, Hanno J., Zechner, Ulrich, Buxmann, Horst
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632361/
https://www.ncbi.nlm.nih.gov/pubmed/36307213
http://dx.doi.org/10.1101/mcs.a006213

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632361/
https://www.ncbi.nlm.nih.gov/pubmed/36307213
http://dx.doi.org/10.1101/mcs.a006213

Ejemplares similares