Article
A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.
Journal of neurology - 1 Mar 2021
Greisenegger Elli Katharine, Llufriu Sara, Chamorro Angel, Cervera Alvaro, Jimenez-Escrig Adriano, Rappersberger Klemens, Marik Wolfgang, Greisenegger Stefan, Stögmann Elisabeth, Kopp Tamara, Strom Tim M, Henes Jörg, Joutel Anne, Zimprich Alexander
Abstract excerpt
Sneddon syndrome is a rare disorder affecting small and medium-sized blood vessels that is characterized by the association of livedo reticularis and stroke. We performed whole-exome sequencing (WES) in 2 affected siblings of a consanguineous family with childhood-onset stroke and identified a homozygous nonsense mutation within the epidermal growth factor repeat (EGFr) 19 of NOTCH3, p.(Arg735Ter). WES of 6...
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