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, Essie 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 Unap, Lynne M. Bird, Diane Masser-Frye, Jennifer R. Friedman, Modupe A. Sokunbi, Abhijit Dixit, Miranda Splitt, Mary K. Kukolich, Julie McGaughran, Bradley P. Coe, Jess Flórez, Nael Nadif Kasr, Han G. Brunner, Elizabeth M. Thompson, Jozef Gecz, Corrado Romano, Evan E. Eichler, Bert B.A. De Vries

*Korrespondierende/r Autor/-in für diese Arbeit
45 Zitate (Scopus)

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Medizin & Biologie