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Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

Marfan syndrome (MFS) is a hereditary connective tissue disease caused by heterozygous mutations in the fibrillin-1 gene (FBN1) located on chromosome 15q21.1. A complex chromosomal rearrangement leading to MFS has only been reported in one case so far. We report on a mother and daughter with marfano...

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Detalles Bibliográficos
Autores principales:	Schnause, Anna Clara, Komlosi, Katalin, Herr, Barbara, Neesen, Jürgen, Dremsek, Paul, Schwarz, Thomas, Tzschach, Andreas, Jägle, Sabine, Lausch, Ekkehart, Fischer, Judith, Gläser, Birgitta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618173/ https://www.ncbi.nlm.nih.gov/pubmed/34828442 http://dx.doi.org/10.3390/genes12111836

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