Genotype–Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care

Currently, no reliable genotype–phenotype correlation is available for pediatric Marfan patients in everyday clinical practice. We investigated correlations of FBN1 variants with the prevalence and age of onset of Marfan manifestations in childhood and differentiated three groups: missense/in-frame,...

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Detalles Bibliográficos
Autores principales: Stark, Veronika C., Hensen, Flemming, Kutsche, Kerstin, Kortüm, Fanny, Olfe, Jakob, Wiegand, Peter, von Kodolitsch, Yskert, Kozlik-Feldmann, Rainer, Müller, Götz C., Mir, Thomas S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397236/
https://www.ncbi.nlm.nih.gov/pubmed/32679894
http://dx.doi.org/10.3390/genes11070799

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397236/
https://www.ncbi.nlm.nih.gov/pubmed/32679894
http://dx.doi.org/10.3390/genes11070799

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