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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
Schlagworte:
Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge