File:PMC4772338 13023 2016 399 Fig1 HTML.png

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PMC4772338_13023_2016_399_Fig1_HTML.png(472 × 355 pixels, file size: 427 KB, MIME type: image/png)

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Summary

Author:Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H ,Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust (Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC4772338_13023_2016_399_Fig1_HTML&query=Vici%20syndrome&it=xg&req=4&npos=2 Description:Fig1: Clinical features of Vici syndrome. Note hypopigmentation in relation to ethnic (a–d, of Turkish origin) and familial (e–f) background. Coarsening of facial features with full lips and macroglossia resembling (lysosomal) storage disorders is noted in some older children (g). There is evidence of retinal hypopigmentation and optic atrophy on fundoscopy (h). From Cullup et al. Nature Genetics 2013; 45 (1):83–87, reproduced with permission

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current19:31, 23 September 2021Thumbnail for version as of 19:31, 23 September 2021472 × 355 (427 KB)Ozzie10aaaaAuthor:Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H ,Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust (Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC4772338_13023_2016_399_Fig1_HTML&query=Vici%20syndrome&it=xg&req=4&npos=2 Description:Fig1: Clinical features of Vici syndrome. Note hypopigmentation in relation to ethnic (a–d, of Turkish origin) and fa...

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