The DOI matches its Crossref record; 139 of the 139 references it cites were found in a registry or an index.
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Open accessAbstract
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. Cornelia de Lange syndrome is a genetic disorder affecting multiple organ systems that exhibits great phenotypic heterogeneity. This Consensus Statement summarizes recommendations for the diagnosis and management of patients with Cornelia de Lange syndrome.
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Metadata
- Authors
- 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., Tümer, Z., Van Balkom, I. D. C., & Hennekam, R. C.
- Venue
- Nature Reviews Genetics
- Published
- 2018-07-11
- Volume
- 19
- Issue
- 10
- Pages
- 649-666
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2871213110
- Cited by
- 367
- References
- 139
- FWCI
- 4.42
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- 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., . . . Hennekam, R. C. (2018). Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nature Reviews Genetics. https://doi.org/10.1038/s41576-018-0031-0
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