Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. [electronic resource]
- European journal of human genetics : EJHG Nov 2010
- 1196-201 p. digital
Publication Type: Case Reports; Journal Article
1476-5438
10.1038/ejhg.2010.102 doi
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