Case report: marfan syndrome (MFS) mimicking cutaneous vasculitis

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by variants in the extracellular microfibril fibrillin (FBN1) gene. Here we report an FBN1 variant in a child with an unusual skin rash mimicking cutaneous vasculitis, and mild aortic root dilatation. The case was compl...

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書誌詳細

出版年:	Frontiers in Pediatrics
主要な著者:	Fiona Price-Kuehne, Ebun Omoyinmi, Maha Younes, Matthew Edwards, Despina Eleftheriou, Paul Brogan
フォーマット:	論文
言語:	英語
出版事項:	Frontiers Media S.A. 2023-06-01
主題:	marfan syndrome FBN1 gene vasculitis skin rash aortic dilatation
オンライン･アクセス:	https://www.frontiersin.org/articles/10.3389/fped.2023.1205255/full