De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Document Type
Journal Article
Publication Date
7-22-2020
Journal
Genetics in Medicine
DOI
10.1038/s41436-020-0898-y
APA Citation
Cappuccio, G., Sayou, C., Tanno, P., Tisserant, E., Bruel, A., Kennani, S., Sá, J., Low, K., Dias, C., Havlovicová, M., Hančárová, M., Eichler, E., Devillard, F., Moutton, S., Van-Gils, J., Dubourg, C., Odent, S., Gerard, B., Piton, A., Yamamoto, T., Okamoto, N., Firth, H., Metcalfe, K., Moh, A., Chapman, K. A., Aref-Eshghi, E., Kerkhof, J., Torella, A., Nigro, V., Perrin, L., Piard, J., Le Guyader, G., Jouan, T., Thauvin-Robinet, C., Duffourd, Y., George-Abraham, J., Buchanan, C., Williams, D., Kini, U., Wilson, K., Sousa, S., Hennekam, R., Sadikovic, B., Thevenon, J., Govin, J., Vitobello, A., & Brunetti-Pierri, N. (2020). De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.. Genetics in Medicine, (). http://dx.doi.org/10.1038/s41436-020-0898-y
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