A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis. [electronic resource]
Producer: 20110928Description: 310-3 p. digitalISSN:- 1878-0849
- 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
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Publication Type: Case Reports; Journal Article
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