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

doi:10.1038/s41576-018-0031-0

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Article

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

Nature reviews. Genetics - 1 Oct 2018

Kline Antonie D, Moss Joanna F, Selicorni Angelo, Bisgaard Anne-Marie, Deardorff Matthew A, Gillett Peter M, Ishman Stacey L, Kerr Lynne M, Levin Alex V, Mulder Paul A, Ramos Feliciano J, Wierzba Jolanta, Ajmone Paola Francesca, Axtell David, Blagowidow Natalie, Cereda Anna, Costantino Antonella, Cormier-Daire Valerie, FitzPatrick David, Grados Marco, Groves Laura, Guthrie Whitney, Huisman Sylvia, Kaiser Frank J, Koekkoek Gerritjan, Levis Mary, Mariani Milena, McCleery Joseph P, Menke Leonie A, Metrena Amy, O'Connor Julia, Oliver Chris, Pie Juan, Piening Sigrid, Potter Carol J, Quaglio Ana L, Redeker Egbert, Richman David, Rigamonti Claudia, Shi Angell, Tümer Zeynep, Van Balkom Ingrid D C, Hennekam Raoul C

Abstract excerpt

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...

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PMID: 29995837
DOI: 10.1038/s41576-018-0031-0
PMCID: PMC7136165

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