Hypothesis-free DNA methylation profiling in a 66-year-old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142-related disease (left panel) and led to a retrospective diagnosis of Angelman syndrome, highlighting the diagnostic potential of single-patient epigenetic screening (right panel).
Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling / Hildonen, Mathis; Ferilli, Marco; Krey, Ilona; Kohnen, Oona; Cappelletti, Camilla; Platzer, Konrad; Ciolfi, Andrea; Jamra, Rami Abou; Tartaglia, Marco; Tümer, Zeynep. - In: CLINICAL GENETICS. - ISSN 1399-0004. - 108:3(2025), pp. 369-370. [10.1111/cge.70000]
Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling
Ferilli, Marco;Ciolfi, Andrea;
2025
Abstract
Hypothesis-free DNA methylation profiling in a 66-year-old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142-related disease (left panel) and led to a retrospective diagnosis of Angelman syndrome, highlighting the diagnostic potential of single-patient epigenetic screening (right panel).| File | Dimensione | Formato | |
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Note: https://doi.org/10.1111/cge.70000
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