Glomulin mutation and glomuvenous malformations: two case reports with the same mutation but different phenotypes
Author:
Publisher
John Libbey Eurotext
Subject
Dermatology
Link
https://link.springer.com/content/pdf/10.1684/ejd.2018.3390.pdf
Reference8 articles.
1. Wassef M, Blei F, Adams D, et al. Vascular Anomalies Classification: Recommendations from the International Society for the Study of Vascular Anomalies. Pediatrics 2015; 136: e203–14.
2. Brouillard P, Boon LM, Mulliken JB, et al. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (“glomangiomas”). Am J Hum Genet 2002; 70: 866–74.
3. Conde–Taboada A, Campos L, Cuccolini L, López–Bran E. Multiple, neonatal, self–healing, cutaneous glomuvenous malformations. Indian J Dermatol Venereol Leprol 2017; 83: 226–8.
4. Vikkula M, Boon LM, Carraway KL III, et al. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell 1996; 87: 1181–90.
5. Soblet J, Limaye N, Uebelhoer M, Boon LM, Vikkula M. Variable somatic TIE2 mutations in half of sporadic venous malformations. Mol Syndromol 2013; 4: 179–83.
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