Ontology highlight
ABSTRACT:
SUBMITTER: Niemitz EL
PROVIDER: S-EPMC1182113 | biostudies-literature | 2004 Nov
REPOSITORIES: biostudies-literature
American journal of human genetics 20040915 5
Beckwith-Wiedemann syndrome (BWS), which causes prenatal overgrowth, midline abdominal wall defects, macroglossia, and embryonal tumors, is a model for understanding the relationship between genomic imprinting, human development, and cancer. The causes are heterogeneous, involving multiple genes on 11p15 and including infrequent mutation of p57(KIP2) or loss of imprinting of either of two imprinted gene domains on 11p15: LIT1, which is near p57(KIP2), or H19/IGF2. Unlike Prader-Willi and Angelma ...[more]