Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Abstract Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is
characterized by intellectual disability, well-defined facial features, upper limb anomalies …

Hydrops fetalis is an excessive fluid accumulation within the fetal extra vascular
compartments and body cavities. Non‐immune hydrops fetalis (NIHF), due to causes other …

In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that
LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass …

Background Duplications and deletions in the human genome can cause disease or
predispose persons to disease. Advances in technologies to detect these changes allow for …

Genomic disorders are characterized by the presence of flanking segmental duplications
that predispose these regions to recurrent rearrangement. Based on the duplication …

CREB-binding protein and p300 function as transcriptional coactivators in the regulation of
gene expression through various signal-transduction pathways. Both are potent histone …

Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features
mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with …

Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics
define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a …

Elevated transforming growth factor (TGF)-β signaling has been implicated in the
pathogenesis of syndromic presentations of aortic aneurysm, including Marfan syndrome …