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Article

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

Genes - 15 Jul 2020

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

Abstract excerpt

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, splice, and nonsense/frameshift variants. In addition, we differentiated missense variants destroying or generating...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32679894
DOI: 10.3390/genes11070799
PMCID: PMC7397236

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