Although Mendelian genetic disorders are individually rare, they are collectively more
common and contribute disproportionately to pediatric morbidity and mortality. Remarkable …

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 …

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

Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by
various (epi) genetic alterations affecting the expression of genes on chromosome 11p15 …

The increasing amount of data from studies on genetic syndromes in diverse populations is
significantly improving our knowledge and approach to dysmorphic patients from various …

Rhabdomyosarcomas (RMS) constitute a heterogeneous spectrum of tumors with respect to
clinical behavior and tumor morphology. The paternal uniparental disomy (pUPD) of 11p15 …

Individuals with suspected rare genetic disorders often undergo multiple clinical evaluations,
imaging studies, laboratory tests and genetic tests, to find a possible answer over a …

Background Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder
caused by genetic or epigenetic alterations at two imprinting centers (ICs) in the 11p15. 5 …

Simple Summary Beckwith-Wiedemann syndrome (BWSp) has recently been renamed to
spectrum to reflect its diverse presentation and clinical features. In 2018, an international …

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is the most common congenital
overgrowth disorder with an incidence of approximately 1 in 10,000 live births. The condition …