Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

N. Revencu; L.M. Boon; J.B. Mulliken; O. Eniolras; M.R. Cordisco; P.E. Burrows; P. Clapuyt; F. Hammer; J. Dubois; E. Baselga; F. Brancati; R. Carder; J.M.C. Quintal; B. Dallapiccola; G. Fischer; I.J. Frieden; M. Garzon; J. Harper; J. Johnson-Patel; C. Labreze; L. Martorell; H.J. Paltiel; A. Pohl; J. Prendiville; I. Quere; D.H. Siegel; E.M. Valente; J.M. van Hagen; L.P. van Hest; K.K. Vaux; A. Vicente; L. Weibel; D. Chitayat; M. Vikkulal

doi:https://doi.org/10.1002/humu.20746

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

N. Revencu, L.M. Boon, J.B. Mulliken, O. Eniolras, M.R. Cordisco, P.E. Burrows, P. Clapuyt, F. Hammer, J. Dubois, E. Baselga, F. Brancati, R. Carder, J.M.C. Quintal, B. Dallapiccola, G. Fischer, I.J. Frieden, M. Garzon, J. Harper, J. Johnson-Patel, C. LabrezeL. Martorell, H.J. Paltiel, A. Pohl, J. Prendiville, I. Quere, D.H. Siegel, E.M. Valente, J.M. van Hagen, L.P. van Hest, K.K. Vaux, A. Vicente, L. Weibel, D. Chitayat, M. Vikkulal

Research output: Contribution to journal › Article › Academic › peer-review

304 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	959-965
Journal	Human mutation
Volume	29
Issue number	7
DOIs	https://doi.org/10.1002/humu.20746
Publication status	Published - 2008

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https://doi.org/10.1002/humu.20746

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Revencu, N., Boon, L. M., Mulliken, J. B., Eniolras, O., Cordisco, M. R., Burrows, P. E., Clapuyt, P., Hammer, F., Dubois, J., Baselga, E., Brancati, F., Carder, R., Quintal, J. M. C., Dallapiccola, B., Fischer, G., Frieden, I. J., Garzon, M., Harper, J., Johnson-Patel, J., ... Vikkulal, M. (2008). Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Human mutation, 29(7), 959-965. https://doi.org/10.1002/humu.20746

@article{8891fc6326b344229f1584556babd09c,

title = "Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations",

author = "N. Revencu and L.M. Boon and J.B. Mulliken and O. Eniolras and M.R. Cordisco and P.E. Burrows and P. Clapuyt and F. Hammer and J. Dubois and E. Baselga and F. Brancati and R. Carder and J.M.C. Quintal and B. Dallapiccola and G. Fischer and I.J. Frieden and M. Garzon and J. Harper and J. Johnson-Patel and C. Labreze and L. Martorell and H.J. Paltiel and A. Pohl and J. Prendiville and I. Quere and D.H. Siegel and E.M. Valente and {van Hagen}, J.M. and {van Hest}, L.P. and K.K. Vaux and A. Vicente and L. Weibel and D. Chitayat and M. Vikkulal",

year = "2008",

doi = "https://doi.org/10.1002/humu.20746",

language = "Undefined/Unknown",

volume = "29",

pages = "959--965",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "7",

}

Revencu, N, Boon, LM, Mulliken, JB, Eniolras, O, Cordisco, MR, Burrows, PE, Clapuyt, P, Hammer, F, Dubois, J, Baselga, E, Brancati, F, Carder, R, Quintal, JMC, Dallapiccola, B, Fischer, G, Frieden, IJ, Garzon, M, Harper, J, Johnson-Patel, J, Labreze, C, Martorell, L, Paltiel, HJ, Pohl, A, Prendiville, J, Quere, I, Siegel, DH, Valente, EM, van Hagen, JM , van Hest, LP, Vaux, KK, Vicente, A, Weibel, L, Chitayat, D & Vikkulal, M 2008, 'Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations', Human mutation, vol. 29, no. 7, pp. 959-965. https://doi.org/10.1002/humu.20746

TY - JOUR

T1 - Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

AU - Revencu, N.

AU - Boon, L.M.

AU - Mulliken, J.B.

AU - Eniolras, O.

AU - Cordisco, M.R.

AU - Burrows, P.E.

AU - Clapuyt, P.

AU - Hammer, F.

AU - Dubois, J.

AU - Baselga, E.

AU - Brancati, F.

AU - Carder, R.

AU - Quintal, J.M.C.

AU - Dallapiccola, B.

AU - Fischer, G.

AU - Frieden, I.J.

AU - Garzon, M.

AU - Harper, J.

AU - Johnson-Patel, J.

AU - Labreze, C.

AU - Martorell, L.

AU - Paltiel, H.J.

AU - Pohl, A.

AU - Prendiville, J.

AU - Quere, I.

AU - Siegel, D.H.

AU - Valente, E.M.

AU - van Hagen, J.M.

AU - van Hest, L.P.

AU - Vaux, K.K.

AU - Vicente, A.

AU - Weibel, L.

AU - Chitayat, D.

AU - Vikkulal, M.

PY - 2008

Y1 - 2008

U2 - https://doi.org/10.1002/humu.20746

DO - https://doi.org/10.1002/humu.20746

M3 - Article

C2 - 18446851

VL - 29

SP - 959

EP - 965

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 7

ER -