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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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Detalles Bibliográficos
Autores principales: Price-Kuehne, Fiona, Omoyinmi, Ebun, Younes, Maha, Edwards, Matthew, Eleftheriou, Despina, Brogan, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10308279/
https://www.ncbi.nlm.nih.gov/pubmed/37397156
http://dx.doi.org/10.3389/fped.2023.1205255