Publication
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A-M., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tumer, Z., Van Balkom, I. D. C. & Hennekam, R. C., Oct-2018, In : Nature Reviews Genetics. 19, 10, p. 649-666 18 p.Research output: Contribution to journal › Review article › Academic › peer-review

Documents
- Diagnosis and management of Cornelia de Lange syndrome first international consensus statement
Final publisher's version, 1.97 MB, PDF document
DOI
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.
Original language | English |
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Pages (from-to) | 649-666 |
Number of pages | 18 |
Journal | Nature Reviews Genetics |
Volume | 19 |
Issue number | 10 |
Publication status | Published - Oct-2018 |
- BRACHMANN-DELANGE-SYNDROME, AUTISM SPECTRUM DISORDER, OF-THE-LITERATURE, GENOTYPE-PHENOTYPE CORRELATIONS, SELF-INJURIOUS-BEHAVIOR, DU-CHAT-SYNDROMES, CONGENITAL DIAPHRAGMATIC-HERNIA, AUTOSOMAL-DOMINANT INHERITANCE, RUBINSTEIN-TAYBI SYNDROMES, TO-MALE TRANSMISSION
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