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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Опубликовано в: :Eur J Hum Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Springer International Publishing 2018
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Article
Online-ссылка: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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