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CUL3-Related Neurodevelopmental Disorder: Clinical Phenotype of 20 New Individuals and Identification of a Potential Phenotype-Associated Episignature

Liselot van der Laan, Ananilia Silva,Lotte Kleinendorst,Kathleen Rooney,Sadegheh Haghshenas,Peter Lauffer,Yasemin Alanay,Pratibha Bhai,Alfredo Brusco, Sonja de Munnik,Bert B. A. de Vries, Angelica Delgado Vega,Marc Engelen,Johanna C. Herkert,Ron Hochstenbach,Saskia Hopman,Sarina G. Kant,Ryutaro Kira,Mitsuhiro Kato,Boris Keren,Hester Y. Kroes,Michael A. Levy,Ngu Lock-Hock,Saskia M. Maas,Grazia M. S. Mancini,Carlo Marcelis,Naomichi Matsumoto,Takeshi Mizuguchi,Alessandro Mussa,Cyril Mignot, Anu Narhi,Ann Nordgren,Rolph Pfundt,Abeltje M. Polstra,Slavica Trajkova,Yolande van Bever, Marie Jose van den Boogaard,Jasper J. van der Smagt,Tahsin Stefan Barakat,Marielle Alders,Marcel M. A. M. Mannens,Bekim Sadikovic,Mieke M. van Haelst,Peter Henneman

HUMAN GENETICS AND GENOMICS ADVANCES（2025）

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关键词
CUL3,Intellectual disability,DNA methylation,Episignature,NEDAUS,Genotype-phenotype correlation
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