File:Clinical characteristics of individuals with MDP syndrome Figure 1.png
Clinical_characteristics_of_individuals_with_MDP_syndrome_Figure_1.png (470 × 368 pixels, file size: 385 KB, MIME type: image/png)
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[edit]DescriptionClinical characteristics of individuals with MDP syndrome Figure 1.png |
English: Subject 1 (aged 15 years), demonstrating prominent lipodystrophy, small nose, 'pseudoproptosis' secondary to lack of subcutaneous periorbital fat, tight skin, mandibular hypoplasia, bilateral hearing aids and reduced limb muscles. Informed consent was obtained to publish this photograph. |
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Date | |||
Source | An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy, Nature Genetics 45, 947–950 (2013) doi:10.1038/ng.2670 | ||
Author | Michael N Weedon, Sian Ellard, Marc J Prindle, Richard Caswell, Hana Lango Allen, Richard Oram, Koumudi Godbole, Chittaranjan S Yajnik, Paolo Sbraccia, Giuseppe Novelli, Peter Turnpenny, Emma McCann, Kim Jee Goh, Yukai Wang, Jonathan Fulford, Laura J McCulloch, David B Savage, Stephen O'Rahilly, Katarina Kos, Lawrence A Loeb, Robert K Semple & Andrew T Hattersley | ||
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current | 14:35, 11 December 2014 | 470 × 368 (385 KB) | Timeames85 (talk | contribs) | User created page with UploadWizard |
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