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

βœ‡Most Recent Articles: Clinical Epigenetics
By: Claudio Peter D’Incal Β· Anke Van Dijck Β· Dale John Annear Β· Lusine Harutyunyan Β· Ellen Elinck Β· Alexander J. M. Dingemans Β· Bert B. A. de Vries Β· Ligia Mateiu Β· Marije Meuwissen Β· Anna C. Jansen and R. Frank Kooy
The Helsmoortel-Van der Aa syndrome is an autosomal-dominant neurodevelopment disorder caused by heterozygous de novo variants in the Activity-Dependent Neuroprotective Protein (ADNP) gene, characterized by autis...
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