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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發表在:Genes (Basel)
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: MDPI 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7397236/
https://ncbi.nlm.nih.gov/pubmed/32679894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11070799
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