Informazioni

BRD4

BRD4 codes for a protein that associates with NIPBL and likely attaches to the protein once the cohesin ring has bound the DNA (³⁷). The number of reported individuals with variants involving BRD4 is small, but a deletion that includes BRD4 has an atypical phenotype for CdLS.

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Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

_{Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., 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. and Hennekam, R. C. (2018).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 lug 2018

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Ultima modifica di Gerritjan Koekkoek il 2022/09/29 16:10

Creato da Gerritjan Koekkoek il 2019/03/27 15:09

BRD4

BRD4

Vereniging Cornelia de Lange syndroom

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