Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders

Thomas Eggermann; Miriam Elbracht; Carmen Schröder; Heiko Reutter; Lukas Soellner; Sabrina Spengler; Matthias Begemann

doi:10.1016/j.jpeds.2013.05.017

Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders

J Pediatr. 2013 Oct;163(4):1202-7. doi: 10.1016/j.jpeds.2013.05.017. Epub 2013 Jul 1.

Authors

Thomas Eggermann¹, Miriam Elbracht, Carmen Schröder, Heiko Reutter, Lukas Soellner, Sabrina Spengler, Matthias Begemann

Affiliation

¹ Institute of Human Genetics, RWTH Technical University, Aachen, Germany. Electronic address: teggermann@ukaachen.de.

PMID: 23809048
DOI: 10.1016/j.jpeds.2013.05.017

No abstract available

Keywords: BWS; Beckwith-Wiedemann syndrome; ICR; ID; Imprinting control region; Imprinting disorder; MLMD; Multilocus methylation defect; SRS; Silver-Russell syndrome; TNDM; Transient neonatal diabetes mellitus; UPD; Uniparental disomy.

Publication types

Clinical Conference

MeSH terms

Abnormalities, Multiple / genetics*
Adolescent
Child
Child, Preschool
Chromosome Mapping
DNA Methylation
Epigenesis, Genetic
Female
Genetic Association Studies
Genomic Imprinting*
Heterozygote
Humans
Infant
Male
Phenotype
Syndrome
Uniparental Disomy / genetics