Syndromic genetic conditions, in aggregate, affect 8% of the population. Many syndromes
have recognizable facial features that are highly informative to clinical geneticists,–. Recent …

The objective of this review is to consider the psychological (largely behavioral) and
biological [neurochemical, medical (including genetic), and pharmacological] theories and …

Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to
severe. Severe (classic) CdLS is characterized by distinctive facial features, growth …

The evolutionarily conserved cohesin complex was originally described for its role in
regulating sister-chromatid cohesion during mitosis and meiosis. Cohesin and its regulatory …

Abstract Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct
facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and …

Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …

Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental
disorders in which known mutations contribute to disease risk in 20% of cases. Here, we …

SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to
cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing …

Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated
with a recognisable facial pattern. However, the heterogeneity in causal genes and the …

The cohesin complex mediates DNA-DNA interactions both between (sister chromatid
cohesion) and within chromosomes (DNA looping). It has been suggested that intra …