TY  - GEN
AU  - Faguer,Stanislas
AU  - De Sandre-Giovannoli,Annachiara
AU  - Hemery,Michèle
AU  - Lévy,Nicolas
AU  - Lamant,Laurence
AU  - Arveiler,Benoît
AU  - Rooryck,Caroline
AU  - Prouheze,Cathie
AU  - Vigouroux,Adeline
AU  - Chauveau,Dominique
AU  - Calvas,Patrick
AU  - Chassaing,Nicolas
TI  - A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
SN  - 1878-0849
PY  - 2011///0928
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adult
KW  - Chromosome Aberrations
KW  - Chromosome Banding
KW  - Chromosome Disorders
KW  - Chromosomes, Human, Pair 5
KW  - Comparative Genomic Hybridization
KW  - Epilepsy
KW  - pathology
KW  - Female
KW  - Gene Duplication
KW  - Glomerulonephritis
KW  - Humans
KW  - Ichthyosis
KW  - Intellectual Disability
KW  - Lipodystrophy
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2011.01.005
ER  -