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Comparative Study
. 2017 Jan;137(1):15-17.
doi: 10.1016/j.jid.2016.08.011.

Double Jeopardy: The Rubber Ball Bounces Twice

Jack L Arbiser  1 , Linda C Gilbert  2
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Free article
Comparative Study

Double Jeopardy: The Rubber Ball Bounces Twice

Jack L Arbiser et al. J Invest Dermatol. 2017 Jan.
Free article

Abstract

Soblet et al. describe cis mutations in TEK/Tie-2 in blue rubber bleb nevus and sporadic vascular malformations. This suggests that the remaining normal allele is required for the phenotype. Second, it suggests therapeutic approaches to treatment signal transduction inhibition.

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  • Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
    Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M. Soblet J, et al. J Invest Dermatol. 2017 Jan;137(1):207-216. doi: 10.1016/j.jid.2016.07.034. Epub 2016 Aug 9. J Invest Dermatol. 2017. PMID: 27519652

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