Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.

Sparago, Angela

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. [electronic resource] - Nature genetics Sep 2004 - 958-60 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1061-4036

10.1038/ng1410 doi


Alleles
Beckwith-Wiedemann Syndrome--genetics
CCCTC-Binding Factor
DNA Methylation
DNA-Binding Proteins--genetics
Gene Deletion
Gene Silencing
Genomic Imprinting
Humans
Insulin-Like Growth Factor II--genetics
Molecular Sequence Data
Pedigree
RNA, Long Noncoding
RNA, Untranslated
Repressor Proteins--genetics