Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome. [electronic resource]
Producer: 20110614Description: 89-93 p. digitalISSN:- 1878-0849
- Abnormalities, Multiple -- genetics
- Beckwith-Wiedemann Syndrome -- pathology
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 7 -- genetics
- GRB10 Adaptor Protein -- genetics
- Genomic Imprinting
- Heart Defects, Congenital -- pathology
- Humans
- Hyperglycemia -- pathology
- Infant
- Karyotyping
- Male
- Phenotype
- Skull -- abnormalities
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Publication Type: Case Reports; Letter
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