Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …

Cornelia de Lange syndrome (CdLS; MIM# 122470, 300590, 610759, 614701, 300882) is a
rare and clinically variable disorder that affects multiple organs. It is characterized by …

Cellular processes often depend on stable physical associations between proteins. Despite
recent progress, knowledge of the composition of human protein complexes remains limited …

Cornelia de Lange syndrome (C d LS) is a clinically and genetically heterogeneous
developmental disorder. Clinical features include growth retardation, intellectual disability …

Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents
with extensive phenotypic variability, including facial dysmorphism, developmental …

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 …

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 …

Background Cornelia de Lange syndrome (CdLS) is a well known malformation syndrome
for which five causative genes are known, accounting for∼ 55–65% of cases. In this study …