Information

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).

Find andre sidder der deles de sammen emne som den side Moleculair diagnostic criteria14 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).

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

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