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

Genotype–Phenotype Correlation in Children: The Impact of <i>FBN1</i> 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 <i>FBN1</i> variants with the prevalence and age of onset of Marfan manifestations in childhood and differentiated three groups:...

Full description

Bibliographic Details
Main Authors: Veronika C. Stark, Flemming Hensen, Kerstin Kutsche, Fanny Kortüm, Jakob Olfe, Peter Wiegand, Yskert von Kodolitsch, Rainer Kozlik-Feldmann, Götz C. Müller, Thomas S. Mir
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Genes
Subjects:
Marfan syndrome
childhood
genetic testing
<i>FBN1</i> variant
genotype–phenotype
variant spectrum
Online Access:https://www.mdpi.com/2073-4425/11/7/799

Internet

https://www.mdpi.com/2073-4425/11/7/799

Similar Items