Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder related to variants in the FBN1 gene. Prognosis is related to aortic risk of dissection following aneurysm. MFS clinical variability is notable, for age of onset as well as severity and number of clinical manifestations. T...

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Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: Aubart, Melodie, Gazal, Steven, Arnaud, Pauline, Benarroch, Louise, Gross, Marie-Sylvie, Buratti, Julien, Boland, Anne, Meyer, Vincent, Zouali, Habib, Hanna, Nadine, Milleron, Olivier, Stheneur, Chantal, Bourgeron, Thomas, Desguerre, Isabelle, Jacob, Marie-Paule, Gouya, Laurent, Génin, Emmanuelle, Deleuze, Jean-François, Jondeau, Guillaume, Boileau, Catherine
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer International Publishing 2018
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6244213/
https://ncbi.nlm.nih.gov/pubmed/30087447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0164-9
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