Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.

doi:10.1016/j.jid.2016.07.034

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Article

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.

The Journal of investigative dermatology - 1 Jan 2017

Soblet Julie, Kangas Jaakko, Nätynki Marjut, Mendola Antonella, Helaers Raphaël, Uebelhoer Melanie, Kaakinen Mika, Cordisco Maria, Dompmartin Anne, Enjolras Odile, Holden Simon, Irvine Alan D, Kangesu Loshan, Léauté-Labrèze Christine, Lanoel Agustina, Lokmic Zerina, Maas Saskia, McAleer Maeve A, Penington Anthony, Rieu Paul, Syed Samira, van der Vleuten Carine, Watson Rosemarie, Fishman Steven J, Mulliken John B, Eklund Lauri, Limaye Nisha, Boon Laurence M, Vikkula Miikka

Abstract excerpt

Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with...

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PMID: 27519652
DOI: 10.1016/j.jid.2016.07.034

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