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Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review

BACKGROUND: FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component of microfibrils that are widely distributed in structural elements of elastic and non-elastic tissues. FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic...

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Detalles Bibliográficos
Autores principales:	Reyes-Hernández, Octavio D., Palacios-Reyes, Carmen, Chávez-Ocaña, Sonia, Cortés-Malagón, Enoc M., Alonso-Themann, Patricia Garcia, Ramos-Cano, Víctor, Ramírez-Bello, Julián, Sierra-Martínez, Mónica
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4753669/ https://www.ncbi.nlm.nih.gov/pubmed/26875674 http://dx.doi.org/10.1186/s12891-016-0935-9

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