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

Introduction Rett syndrome (RTT) is a severe X‐linked neurodevelopmental disorder that
primarily affects girls, with an incidence of 1: 10,000–20,000. The diagnosis is based on …

Brain organoids represent a powerful tool for studying human neurological diseases,
particularly those that affect brain growth and structure. However, many diseases manifest …

Abstract Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem
developmental disorder characterized by highly variable manifestations of growth and …

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 …

Abstract Cornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs
and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first …

Developmental and epileptic encephalopathies (DEEs) can be primarily attributed to genetic
causes. The genetic landscape of DEEs has been largely shaped by the rise of high …

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

Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of
knowledge in the field of rare genetic disorders. Originally described as a unique pattern of …

Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects
females, resulting in severe cognitive and physical disabilities, and is one of the most …