Information

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).

Find andre sidder der deles de sammen emne som den side Moleculair diagnostic criteria17

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).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 jul. 2018

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Senest ændret af Gerritjan Koekkoek den 2022/09/29 16:10

Oprettet af Gerritjan Koekkoek den 2019/03/27 15:09

ANKRD11

ANKRD11

Vereniging Cornelia de Lange syndroom

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