Information

BRD4


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.

Find andre sidder der deles de sammen emne som den side Moleculair diagnostic criteria17
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam
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).

Sidehistorie
Senest ændret af Gerritjan Koekkoek den 2022/09/29 16:10
Oprettet af Gerritjan Koekkoek den 2019/03/27 15:09

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                         


  

Om indholdet af hjemmesiden

Alle oplysninger på dette websted er udelukkende til undervisningsformål. Det er din læge, der er det rette sted at få specifik medicinsk rådgivning, diagnoser og behandling. Brug af dette websted sker udelukkende på eget ansvar. Hvis du finder noget, som du mener, der skal rettes eller præciseres, bedes du give os besked på: 

Send en e-mail: info@cdlsWorld.org