Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with considerable inter- and intra-familial clinical variability. The contribution of inherited modifiers to variability has not been quantified. We analyzed the distribution of 23 clinical features in 1306 well-phenotyped MFS...

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Vydáno v:Genes (Basel)
Hlavní autoři: Grange, Thomas, Aubart, Mélodie, Langeois, Maud, Benarroch, Louise, Arnaud, Pauline, Milleron, Olivier, Eliahou, Ludivine, Gross, Marie-Sylvie, Hanna, Nadine, Boileau, Catherine, Gouya, Laurent, Jondeau, Guillaume
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7288268/
https://ncbi.nlm.nih.gov/pubmed/32443863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11050574
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