The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

Bron
Human genetics - ISSN 0340-6717-143 (2024) p. 761-773
Auteur(s)
    Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K.M. Russel, Kathleen Rooney, Michael A. Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Saskia M. Maas, Lisenka E.L.M. Vissers, Bert B.A. de Vries, Rolph Pfundt, Mariet W. Elting, Johanna M. van Hagen, Nienke E. Verbeek, Marjolijn C.J. Jongmans, Phillis Lakeman, Lynne Rumping, Danielle G.M. Bosch, Antonio Vitobello, Christel Thauvin-Robinet, Laurence Faivre, Sophie Nambot, Aurore Garde, Marjolaine Willems, David Genevieve, Gael Nicolas, Tiffany Busa, Annick Toutain, Marion Gerard, Varoona Bizaoui, Bertrand Isidor, Giuseppe Merla, Maria Accadia, Charles E. Schwartz, Katrin Ounap, Mariette J.V. Hoffer, Marjan M. Nezarati, Marie-Jose H. van den Boogaard, Matthew L. Tedder, Curtis Rogers, Alfredo Brusco, Giovanni B. Ferrero, Marta Spodenkiewicz, Richard Sidlow, Alessandro Mussa, Slavica Trajkova, Emma McCann, Mieke M. van Haelst