Lay translations

cdls.guideline.fig2.spectrum=CdLS spectrum
cdls.guideline.fig2.other=Other phenotypes \n sharing limited signs \n of CdLS
cdls.guideline.fig2.non.classic=Non-classic \n CdLS phenotype
cdls.guideline.fig2.classic=Classic CdLS \n phenotype
cdls.guideline.fig2.variant=Variant in a gene \n involved in dysregulated \n cohesin functioning
cdls.guideline.fig2.unknown=?
cdls.guideline.fig2.variantother=Variant in other gene

cdls.guideline.fig3.eyebrows=Thick eyebrows
cdls.guideline.fig3.shortnose=Short nose
cdls.guideline.fig3.thinupperlip=Thin upper lip
cdls.guideline.fig3.synophrys=Meeting of the medial eyebrows
cdls.guideline.fig3.nasalridge=Concave nasal ridge
cdls.guideline.fig3.upturnednasal=Upturned nasal tip
cdls.guideline.fig3.longphiltrum=Long, indistinct philtrum
cdls.guideline.fig3.downturnedcornersmouth=Downturned corners of mouth

cdls.guideline.fig4.nucleosome=Nucleosome
cdls.guideline.fig4.gene=Gene
cdls.guideline.fig4.enhancer=Enhancer
cdls.guideline.fig4.promotor=Promotor
cdls.guideline.fig4.nipbl=NIPBL
cdls.guideline.fig4.smc3=SMC3
cdls.guideline.fig4.smc1a=SMC1A
cdls.guideline.fig4.rad21=RAD21
cdls.guideline.fig4.hdac8=HDAC8
cdls.guideline.fig4.ankrd11=ANKRD11
cdls.guideline.fig4.rnapii=RNAPII
cdls.guideline.fig4.stag1=STAG1
cdls.guideline.fig4.mau2=MAU2
cdls.guideline.fig4.brd4=BRD4
cdls.guideline.fig4.ac=-Ac
cdls.guideline.fig4.tf=TF
cdls.guideline.fig4.ef=EF
cdls.guideline.fig4.aff4=AFF4
cdls.guideline.fig4.loading=Loading

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

Sidehistorie

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

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