Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …

Simple Summary Beckwith–Wiedemann syndrome (BWS, OMIM 130650) is an inborn
overgrowth disorder caused by molecular alterations in chromosome 11p15. 5. These …

Abstract Background Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition
syndrome caused by defects on chromosome 11p15. 5. The quantitative cancer risks in …

Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused
by absence or overexpression of genes within a single imprinted cluster on human …

Adrenal cortical carcinoma (ACC) is a rare and aggressive malignancy that poses
challenging issues regarding the diagnostic workup. Indeed, no presurgical technique or …

WAGR syndrome is a rare genetic disorder characterized by Wilms tumor, Aniridia,
Genitourinary anomalies, and Range of developmental delays. In addition to the classic …

Genomic imprinting, a phenomenon in which the two parental alleles are regulated
differently, is observed in mammals, marsupials and a few other species, including seed …

Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous
overgrowth disease. BWS is caused by (epi) genetic defects at the 11p15 chromosomal …

Genomic imprinting is a term used for an intergenerational epigenetic inheritance and
involves a subset of genes expressed in a parent-of-origin-dependent way. Imprinted genes …

Epigenetic diseases can be produced by a stable alteration, called an epimutation, in DNA
methylation, in which epigenome alterations are directly involved in the underlying …