The paper on the identification of the cause of BRBN syndrome was published in the January issue of Journal of Investigative Dermatology. This collaborative research paper has been written by VASCern VASCA-WG Chair, Prof Miikka Vikkula, Prof Laurence Boon and their team members Julie Soblet, Antonella Mendola, Raphaël Helaers, Melanie Uebelhoer, HCP Member, Prof Alan Irvine and his team member Rosemarie Watson, HCP team Member Dr Carine van der Vleuten Radboud University Nijmegen Medical Centre, as well as Centers cooperating with VASCA-WG, such as Dr Anne Dompmartin, among others.
See : Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations
Julie Soblet1, Jaakko Kangas2, Marjut Nätynki2, Antonella Mendola1, Raphaël Helaers1, Melanie Uebelhoer1, Mika Kaakinen2, Maria Cordisco3, 17, Anne Dompmartin4, Odile Enjolras5, 18, Simon Holden6, 19, Alan D. Irvine7, Loshan Kangesu8, Christine Léauté-Labrèze9, Agustina Lanoel3, Zerina Lokmic10, Saskia Maas11, Maeve A. McAleer7, Anthony Penington10, Paul Rieu12, Samira Syed13, Carine van der Vleuten14, Rosemarie Watson7, Steven J. Fishman15, John B. Mulliken15, Lauri Eklund2, Nisha Limaye1, Laurence M. Boon1, 16, Miikka Vikkula1.