Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors

Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors

Initially described as a triad of immunodeficiency, congenital heart defects and hypoparathyroidism, 22q11.2 deletion syndrome (22q11.2DS) now encompasses a great amount of abnormalities involving different systems. Approximately 85% of patients share a 3 Mb 22q11.2 region of hemizygous deletion in...

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Bibliographic Details
Main Authors: Francesca Cillo, Emma Coppola, Federico Habetswallner, Francesco Cecere, Laura Pignata, Elisabetta Toriello, Antonio De Rosa, Laura Grilli, Antonio Ammendola, Paolo Salerno, Roberta Romano, Emilia Cirillo, Giuseppe Merla, Andrea Riccio, Claudio Pignata, Giuliana Giardino
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:Genes
Subjects:
22q11.2 deletion syndrome
epigenetics
micro-RNAs
methylation
CpG islands
Online Access:https://www.mdpi.com/2073-4425/15/3/321

Internet

https://www.mdpi.com/2073-4425/15/3/321

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