File:PMC3429868 humu0032-E2069-f2.png

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PMC3429868_humu0032-E2069-f2.png ‎(256 × 287 pixels, file size: 183 KB, MIME type: image/png)

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Attribution 2.5 Generic (CC BY 2.5)

Summary

Author:Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO ,Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital (Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC3429868_humu0032-E2069-f2&query=Carpenter%20syndrome&it=xg&req=4&npos=1 Description:fig02: Clinical appearance of RAB23 mutation-positive Carpenter syndrome at different ages. (A-C) Subject 4388, pregnancy terminated at 19.5 weeks' gestation. (D-I) Childhood pictures of subjects 4206/7 aged 3 days (D,E), 4203 aged 11 mo (F) and 3 yr (G) and 4119 aged 7 yr (H,I). (J,K,L) Subject 4121 aged 29 years. Note dysmorphic craniofacial appearance (A,D,J) and variable combinations of polydactyly, syndactyly and brachydactyly (B,C,H,I,K,L). However polysyndactyly was absent in subject 4203 homozygous for the p.M12K missense mutation (F,G)

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Date/TimeThumbnailDimensionsUserComment
current21:46, 13 August 2021Thumbnail for version as of 21:46, 13 August 2021256 × 287 (183 KB)Ozzie10aaaaAuthor:Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO ,Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital (Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC3429868_humu0032-E2069-f2&query=Carpenter%20syndrome&it=xg&req=4&npos=1 Description:fig02: Clinical appearance of RAB23 mutation-positive Carpenter syndrome at different ages. (A-C) Subject 4388, pregn...

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