Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. [electronic resource]
Producer: 20110302Description: 1196-201 p. digitalISSN:- 1476-5438
- Base Sequence
- Child
- Chromosome Breakpoints
- Chromosome Deletion
- Chromosomes, Human, Pair 15 -- genetics
- Comparative Genomic Hybridization
- Fathers
- Genotype
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Multigene Family
- Phenotype
- Polymorphism, Single Nucleotide
- Prader-Willi Syndrome -- genetics
- RNA, Small Nucleolar -- genetics
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Publication Type: Case Reports; Journal Article
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