A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke

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 homoz...

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Vydáno v:J Neurol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2020
Témata:
Original Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7914241/
https://ncbi.nlm.nih.gov/pubmed/32980981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-020-10081-5
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