当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.

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

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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Faguer S,De Sandre-Giovannoli A,Hemery M,Lévy N,Lamant L,Arveiler B,Rooryck C,Prouheze C,Vigouroux A,Chauveau D,Calvas P,Chassaing N

doi

10.1016/j.ejmg.2011.01.005

subject

Has Abstract

pub_date

2011-05-01 00:00:00

pages

310-3

issue

3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(11)00006-1

journal_volume

54

pub_type

杂志文章

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