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Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

08:00 EDT 11th July 2018 | BioPortfolio

Summary of "Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement."

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 growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.

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This article was published in the following journal.

Name: Nature reviews. Genetics
ISSN: 1471-0064
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