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

@article{Revenu2008ParkesWS,
  title={Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.},
  author={Nicole Revençu and Laurence Myriam Boon and John B. Mulliken and Odile Enjolras and Mar{\'i}a Rosa Cordisco and Patricia E. Burrows and Philippe Clapuyt and Frank D. Hammer and Jos{\'e}e Dubois and Eulalia T. Baselga and Francesco Brancati and Robin Carder and Jos{\'e} Miguel Ceballos Quintal and Bruno Dallapiccola and Gayle Fischer and Ilona J Frieden and Mar{\'i}a Eugenia Garz{\'o}n and John Harper and Jennifer Johnson-Patel and Christine Labr{\`e}ze and Loreto Martorell and Harriet J Paltiel and Annette Pohl and Julie Prendiville and Vanessa Cavaleiro Smith and Dawn H Siegel and Enza Maria Valente and Annet J Van Hagen and Liselot Van Hest and Keith K. Vaux and Asunci{\'o}n Vicente and Lisa Weibel and David C Chitayat and Miikka Vikkula},
  journal={Human mutation},
  year={2008},
  volume={29 7},
  pages={
          959-65
        }
}
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent the hallmark of the disorder. Importantly, one-third had fast-flow vascular lesions. Among them, we… CONTINUE READING
BETA

Citations

Publications citing this paper.
SHOWING 1-10 OF 114 CITATIONS

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

  • European Journal of Human Genetics
  • 2018
VIEW 10 EXCERPTS
CITES BACKGROUND & RESULTS
HIGHLY INFLUENCED

Endothelial Signaling in Development and Disease

  • Springer New York
  • 2015
VIEW 10 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Management of arteriovenous malformations.

  • Clinics in plastic surgery
  • 2011
VIEW 13 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

A novel association between RASA1 mutations and spinal arteriovenous anomalies.

  • AJNR. American journal of neuroradiology
  • 2010
VIEW 5 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

FILTER CITATIONS BY YEAR

2009
2019

CITATION STATISTICS

  • 20 Highly Influenced Citations

  • Averaged 10 Citations per year over the last 3 years

References

Publications referenced by this paper.
SHOWING 1-10 OF 26 REFERENCES

Role of p120 Ras-GAP in directed cell movement

SV Kulkarni, G Gish, P van der Geer, M Henkemeyer, T. Pawson
  • J Cell Biol
  • 2000
VIEW 6 EXCERPTS
HIGHLY INFLUENTIAL

Similar Papers

Loading similar papers…