Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

BACKGROUND: We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause because the disorder presented in early childhood. MET...

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Bibliografiska uppgifter
Huvudupphovsmän: Zhou, Q., Yang, D., Ombrello, A.K., Zavialov, Andrey V., Toro, C., Zavialov, Anton V., Stone, D.L., Chae, J.J., Rosenzweig, S.D., Bishop, K., Barron, K.S., Kuehn, H.S., Hoffmann, P., Negro, A., Tsai, W.L., Cowen, E.W., Pei, W., Milner, J.D., Silvin, C., Heller, T., Chin, D.T., Patronas, N.J., Barber, J.S., Lee, C.-C.R., Wood, G.M., Ling, A., Kelly, S.J., Kleiner, D.E., Mullikin, J.C., Ganson, N.J., Kong, H.H., Hambleton, S., Candotti, F., Quezado, M.M., Calvo, K.R., Alao, H., Barham, B.K., Jones, A., Meschia, J.F., Worrall, B.B., Kasner, S.E., Rich, S.S., Goldbach-Mansky, R., Abinun, M., Chalom, E., Gotte, A.C., Punaro, M., Pascual, V., Verbsky, J.W., Torgerson, T.R., Singer, N.G., Gershon, T.R., Ozen, S., Karadag, O., Fleisher, T.A., Remmers, E.F., Burgess, S.M., Moir, S.L., Gadina, M., Sood, R., Hershfield, M.S., Boehm, M., Kastner, D.L., Aksentijevich, I.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2014
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4193683/
https://ncbi.nlm.nih.gov/pubmed/24552284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1307361
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