A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.
作者信息
Faguer Stanislas, De Sandre-Giovannoli Annachiara, Hemery Michèle, Lévy Nicolas, Lamant Laurence, Arveiler Benoît, Rooryck Caroline, Prouheze Cathie, Vigouroux Adeline, Chauveau Dominique, Calvas Patrick, Chassaing Nicolas
机构信息
Service de Néphrologie et Immunologie Clinique, INSERM U563 (IFR 150), CHU de Toulouse, France.
出版信息
Eur J Med Genet. 2011 May-Jun;54(3):310-3. doi: 10.1016/j.ejmg.2011.01.005. Epub 2011 Jan 27.
PMID:21276880
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.
摘要
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