A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study.

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Title: A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study.
Authors: D'Incal CP; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Van Dijck A; Family Medicine and Population Health (FAMPOP), Department of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium., Annear DJ; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Harutyunyan L; Family Medicine and Population Health (FAMPOP), Department of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium., Elinck E; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Artificial Intelligence, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Mateiu L; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Meuwissen M; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Jansen AC; Translational Neurosciences, University of Antwerp, Antwerp, Belgium. Anna.Jansen@uza.be.; Department of Pediatric Neurology, Antwerp University Hospital, Drie Eikenstraat 655, 2650, Antwerp, Belgium. Anna.Jansen@uza.be., Kooy RF; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. frank.kooy@uantwerpen.be.; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, 2650, Edegem, Belgium. frank.kooy@uantwerpen.be.
Source: Clinical epigenetics [Clin Epigenetics] 2025 Nov 10; Vol. 17 (1), pp. 185. Date of Electronic Publication: 2025 Nov 10.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1868-7083
DOI:10.1186/s13148-025-01998-7