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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محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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.
التنسيق: Artigo
اللغة:Inglês
منشور في: 2014
الموضوعات:
Article
الوصول للمادة أونلاين: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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