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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,...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Genes (Basel)
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2020
Aiheet:
Linkit: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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