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

Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by
multisystemic malformations. CdLS is due to pathogenetic variants in NIPBL, SMC1A …

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

We found that the clinical phenotype associated with BRD4 haploinsufficiency overlapped
with that of Cornelia de Lange syndrome (CdLS), which is most often caused by mutation of …

KBG syndrome is characterized by short stature, distinctive facial features, and
developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin …

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 …

In recent years, many genes have been associated with chromatinopathies classified as
“Cornelia de Lange Syndrome‐like.” It is known that the phenotype of these patients …

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 …

KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short
stature, dysmorphic facial features, and skeletal anomalies. We report a clinical and …