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Description A patient with mevalonic aciduria at the age of 21 months displaying the characteristic facial dysmorphism.
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Source Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 1, 13. 2006. PMID 16722536. DOI:10.1186/1750-1172-1-13
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29 October 2007

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Date/TimeThumbnailDimensionsUserComment
current20:23, 29 October 2007Thumbnail for version as of 20:23, 29 October 2007577 × 830 (82 KB)Filip em{{Information |Description=A patient with mevalonic aciduria at the age of 21 months displaying the characteristic facial dysmorphism. |Source=Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndro

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