| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5905044 | European Journal of Medical Genetics | 2011 | 4 Pages |
Abstract
We report here a 44 years-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichtyosis and glomerulonephritis, carrying a 10Â Mb duplication of the chromosome 5q31.3-5q32.1 region detected by array-CGH.
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Authors
Stanislas Faguer, Annachiara De Sandre-Giovannoli, Michèle Hemery, Nicolas Lévy, Laurence Lamant, Benoît Arveiler, Caroline Rooryck, Cathie Prouheze, Adeline Vigouroux, Dominique Chauveau, Patrick Calvas, Nicolas Chassaing,