Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines




Disease beckwith-wiedemann syndrome
Phenotype C0011847|diabetes
Sentences 1
PubMedID- 25005734 Genetic mutations underlying epimutations have been reported very infrequently in other imprinting disorders, including russell-silver syndrome, transient neonatal diabetes mellitus, and beckwith-wiedemann syndrome associated with kcnq1ot1 (imprinting control region 2) hypomethylation.

Page: 1