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Eur J Med Genet. 2011 May-Jun;54(3):310-3. doi: 10.1016/j.ejmg.2011.01.005. Epub 2011 Jan 27.

A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.

Author information

1
Service de Néphrologie et Immunologie Clinique, INSERM U563 (IFR 150), CHU de Toulouse, France. stanislas.faguer@inserm.fr

Abstract

We report here a 44 years-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichtyosis and glomerulonephritis, carrying a 10 Mb duplication of the chromosome 5q31.3-5q32.1 region detected by array-CGH.

PMID:
21276880
DOI:
10.1016/j.ejmg.2011.01.005
[Indexed for MEDLINE]

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