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NARA Subscribed1
Publisher
Springer Nature1
Journal
Human Genetics1
Publication Year
20241
Raissa Relator results 1 · Newest (Page 1/1, per page 25)
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The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromesNARA Subscribed
Human Genetics · 2024 · Vol. 143 · Issue 6 · Springer
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; Gaël Nicolas; Tiffany Busa; Annick Toutain; Marion Gérard; Varoona Bizaoui; Bertrand Isidor; Giuseppe Merla; Maria Accadia; Charles E. Schwartz; Katrin Ounap; Mariëtte J. V. Hoffer; Marjan M. Nezarati; Marie-José H. van den Boogaard; Matthew L. Tedder; Curtis Rogers; Alfredo Brusco; Giovanni B. Ferrero; Marta Spodenkiewicz; Richard Sidlow; Alessandro Mussa; Slavica Trajkova; Emma McCann; Henry J. Mroczkowski; Sandra Jansen; Laura Donker-Kaat; Floor A. M. Duijkers; Kyra E. Stuurman; Marcel M. A. M. Mannens; Mariëlle Alders; Peter Henneman; Susan M. White; Bekim Sadikovic; Mieke M. van Haelst
Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the Pleckstrin homology domain-interacting protein, which is part of an epigenetic modifier protein complex. Therefore, we hypothesized that PHIP haploinsufficiency may impact genome-wide DNA methylation (DNAm...
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