Cornelia de Lange syndrome (CdLS), also known as Brachmann‐de Lange syndrome, is a
well‐described multiple malformation syndrome typically involving proportionate small stature…

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

… AD Kline, MD is the Director of Pediatric Genetics in the Harvey Institute for Human Genetics
at Greater Baltimore Medical Center. She is an Instructor in Pediatrics at the Johns Hopkins …

Saethre-Chotzen syndrome is one of the most common autosomal dominant disorders of
craniosynostosis in humans and is characterized by craniofacial and limb anomalies. The locus …

Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de
Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. Recently, …

Three hundred ten individuals with a clinical diagnosis of de Lange syndrome were seen and
examined in conjunction with the parent support group. One hundred thirty‐four males and …

… The large number of additional proteins that interact in these complexes suggests multiple
possibilities for modifiers of NIPBL and potential additional CdLS disease genes. In this study, …

Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias
toward males. Previous studies have identified mutations in more than 100 genes on the X …

Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies,
growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological …

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