מידע

ANKRD11


ANKRD11

Changes in the gene ANKRD11 have been reported in several individuals with a non-classic CdLS phenotype (24,43 ), and others have been noted in several clinical observations. Individuals with changes in ANKRD11 show features that overlap with the facial characteristics and suggestive features of CdLS (see Box 1).

מצא דפים אחרים שחולקים את אותו נושא כמו דף זה 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).

היסטוריית הדף
Last modified by Gerritjan Koekkoek on 2022/09/29 16:10
Created by Gerritjan Koekkoek on 2019/03/27 15:09

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