English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

Down Syndrome (DS) is caused by trisomy of Hsa21 in humans [1]. It is the most common autosomal aneuploidy, occurring in about 1 in 700 live births [2]. The clinical features of DS are variable and affect many different aspects of development. In any given individual, there may be over 80 different clinical traits [3]. Major clinical features associated with DS include the distinctive craniofacial appearance, reduced size and altered morphology of the brain, cognitive impairments, hearing loss and defects of the gastrointestinal, immune and endocrine systems [3]. Whilst this constellation of anomalies has been described we are still far from understanding their cause. How does an extra set of normal Hsa21 genes result in whole body system disturbances and what are the molecular genetics bases for these disturbances?

RCAN1 and Its Potential Contribution to the Down Syndrome Phenotype