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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...

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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

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