A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.
Faguer, Stanislas
A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis. [electronic resource] - European journal of medical genetics - 310-3 p. digital
Publication Type: Case Reports; Journal Article
1878-0849
10.1016/j.ejmg.2011.01.005 doi
Abnormalities, Multiple--genetics
Adult
Chromosome Aberrations
Chromosome Banding
Chromosome Disorders--genetics
Chromosomes, Human, Pair 5--genetics
Comparative Genomic Hybridization
Epilepsy--pathology
Female
Gene Duplication
Glomerulonephritis--pathology
Humans
Ichthyosis--pathology
Intellectual Disability--pathology
Lipodystrophy--pathology
A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis. [electronic resource] - European journal of medical genetics - 310-3 p. digital
Publication Type: Case Reports; Journal Article
1878-0849
10.1016/j.ejmg.2011.01.005 doi
Abnormalities, Multiple--genetics
Adult
Chromosome Aberrations
Chromosome Banding
Chromosome Disorders--genetics
Chromosomes, Human, Pair 5--genetics
Comparative Genomic Hybridization
Epilepsy--pathology
Female
Gene Duplication
Glomerulonephritis--pathology
Humans
Ichthyosis--pathology
Intellectual Disability--pathology
Lipodystrophy--pathology