Cancer is perceived as a heterogeneous group of diseases that is characterized by aberrant
patterns of gene expression. In the last decade, an increasing amount of data has pointed to …

Genetic predisposition for childhood cancer is under diagnosed. Identifying these patients
may lead to therapy adjustments in case of syndrome-related increased toxicity or resistant …

Background Increased secretion of growth hormone leads to gigantism in children and
acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly …

Sotos syndrome (SS) represents an important human model system for the study of
epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by …

Comprehensive clinical studies show that adverse conditions in early life can severely
impact the developing brain and increase vulnerability to mood disorders later in life. During …

Neurodevelopmental disorders (NDDs) are characterized by aberrant and delayed early-life
development of the brain, leading to deficits in language, cognition, motor behaviour and …

MECP2 gene transfer has been shown to extend the survival of Mecp2−/y knockout mice
modelling Rett syndrome, an X-linked neurodevelopmental disorder. However, controlling …

The orchestrated organization of epigenetic factors that control chromatin dynamism,
including DNA methylation, histone marks, non-coding RNAs (ncRNAs) and chromatin …

Sotos syndrome is an autosomal dominant condition characterized by overgrowth resulting
in tall stature and macrocephaly, together with an increased risk of tumorigenesis. The …

Overgrowth syndromes are characterized by global or localized disproportionate growth
associated with other anomalies, including vascular malformations and neurological and/or …