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RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M. Revencu N, et al. Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038909
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Wooderchak-Donahue WL, Johnson P, McDonald J, Blei F, Berenstein A, Sorscher M, Mayer J, Scheuerle AE, Lewis T, Grimmer JF, Richter GT, Steeves MA, Lin AE, Stevenson DA, Bayrak-Toydemir P. Wooderchak-Donahue WL, et al. Eur J Hum Genet. 2018 Oct;26(10):1521-1536. doi: 10.1038/s41431-018-0196-1. Epub 2018 Jun 11. Eur J Hum Genet. 2018. PMID: 29891884 Free PMC article.