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RAD21


RAD21

RAD21 also forms part of the core cohesin complex (34). Changes in RAD21 have been found in a small percentage (1-2%) of causes for CdLS. Individuals with changes in RAD21 are reported to have a non-classic CdLS phenotype (17,24,35). Both loss of function and missense mutations have been reported, as well as deletions within the RAD21 gene (36). It is difficult to look at the relationship between this specific gene mutation and clinical characteristics due to the low number of individuals reported to have a mutation in the RAD21 gene.

Trova altre pagine che condividono lo stesso argomento di questa pagina Moleculair diagnostic criteria14 RAD211
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).

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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

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