Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
Duker, Angela L
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
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