The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A. Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E. Veenstra-Knol, Jessie H. Conta, Ana Maria Fortuna, Gabriele Gillessen-Kaesbach, Sarah Dugan, Sara Halbach, Omar A. Abdul-Rahman, Heather M. Winesett, Wendy K. Chung, Marguerite Dalton, Petia S. Dimova, Teresa Mattina, Katrina Prescott, Hui Z. Zhang, Howard M. Saal, Jayne Y. Hehir-KwaMarjolein H. Willemsen, Charlotte W. Ockeloen, Marjolijn C. Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S. Brooks, Sarina G. Kant, Erica H. Gerkes, Helen V. Firth, Katrin Ounap, Lynne M. Bird, Diane Masser-Frye, Jennifer R. Friedman, Modupe A. Sokunbi, Abhijit Dixit, Miranda Splitt, Mary K. Kukolich, Julie McGaughran, Bradley P. Coe, Jesus Florez, Nael Nadif Kasri, Han G. Brunner, Elizabeth M. Thompson, Jozef Gecz, Corrado Romano, Evan E. Eichler, Bert B. A. de Vries

Research output: Contribution to journalArticleAcademicpeer-review

7 Citations (Scopus)
Original languageEnglish
Pages (from-to)652-659
JournalEuropean Journal of Human Genetics
Volume24
Issue number5
DOIs
Publication statusPublished - May 2016

Cite this

Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., Chung, W. K., Dalton, M., Dimova, P. S., Mattina, T., Prescott, K., Zhang, H. Z., Saal, H. M., ... de Vries, B. B. A. (2016). The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. European Journal of Human Genetics, 24(5), 652-659. https://doi.org/10.1038/ejhg.2015.178