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Title:

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

Document type:
Article; Journal Article
Author(s):
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:
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 additional cases with adult-onset stroke revealed 2 patients carrying heterozygous loss-o...     »
Journal title abbreviation:
J Neurol
Year:
2021
Journal volume:
268
Journal issue:
3
Pages contribution:
810-816
Fulltext / DOI:
doi:10.1007/s00415-020-10081-5
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/32980981
Print-ISSN:
0340-5354
TUM Institution:
Institut für Humangenetik
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