Informazioni

SMC3


SMC3

SMC3 is responsible for producing the other major part of the ring of the core cohesin complex. Changes in SMC3 were initially reported in a single individual with non-classic CdLS (16) and changes to this gene are an uncommon cause (1%) of non-classic CdLS (33).

Changes in SMC3 have however, been found in individuals with intellectual disability, short stature (height) and congenital abnormalities (birth defects) who do not fulfil the criteria for non-classic CdLS (24,33). Changes in SMC3 are typically linked to missense mutations (single small mutations; as described here) (33).

Trova altre pagine che condividono lo stesso argomento di questa pagina Moleculair diagnostic criteria17 SMC31
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).

Storia della pagina
Ultima modifica di Gerritjan Koekkoek il 2022/09/29 16:10
Creato da Gerritjan Koekkoek il 2019/03/27 15:09