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Page 1
PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations.
Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, Blei F, Burrows PE, Chamlin SL, Chun RH, Hess CP, Joachim S, Johnson K, Kim W, Liang MG, Maheshwari M, McCoy GN, Metry DW, Monrad PA, Pope E, Powell J, Shwayder TA, Siegel DH, Tollefson MM, Vadivelu S, Lew SM, Frieden IJ, Drolet BA. Garzon MC, et al. J Pediatr. 2016 Nov;178:24-33.e2. doi: 10.1016/j.jpeds.2016.07.054. Epub 2016 Sep 19. J Pediatr. 2016. PMID: 27659028 Free PMC article. Review. No abstract available.
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
Schilter KF, Steiner JE, Demos W, Maheshwari M, Prokop JW, Worthey E, Drolet BA, Siegel DH. Schilter KF, et al. Am J Med Genet A. 2017 Sep;173(9):2557-2561. doi: 10.1002/ajmg.a.38258. Epub 2017 Jul 7. Am J Med Genet A. 2017. PMID: 28686325 Free PMC article.
Natural history of PHACE syndrome: A survey of adults with PHACE.
Stefanko NS, Cossio ML, Powell J, Blei F, Davies OMT, Frieden IJ, Garzon MC, Lauren CT, Maheshwari M, McCuaig CC, Metry D, Salman S, Drolet BA, Siegel DH. Stefanko NS, et al. Pediatr Dermatol. 2019 Sep;36(5):618-622. doi: 10.1111/pde.13871. Epub 2019 Jun 20. Pediatr Dermatol. 2019. PMID: 31222913