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

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 …

Background In the majority of cases, the cause of stillbirth remains unknown despite detailed
clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to …

We describe an X-linked genetic syndrome associated with mutations in TAF1 and
manifesting with global developmental delay, intellectual disability (ID), characteristic facial …

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 …

The NIPBL/MAU2 heterodimer loads cohesin onto chromatin. Mutations in NIPBL account
for most cases of the rare developmental disorder Cornelia de Lange syndrome (CdLS) …

The coordinated tissue-specific regulation of gene expression is essential for the proper
development of all organisms. Mutations in multiple transcriptional regulators cause a group …

Marked by incomplete division of the embryonic forebrain, holoprosencephaly is one of the
most common human developmental disorders. Despite decades of phenotype-driven …