Molecular characterization of imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients

Molecular characterization of imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients

Abstract Background Imprinted genes, characterized by monoallelic expressions (either maternal or paternal), they are crucial for normal growth and development. Disruption of their monoallelic expressions leads to imprinting disorders (ImpDis). The aim of this study is to achieve proper diagnosis of...

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Main Authors: Amal M. Mohamed, Ola Eid, Marwa Farid, Engy Ashaat, Ghada M. H. Abdel-Salam, Hala T. El-Bassyouni, Mahmoud Essa, Rana Mahrous, Peter S. F. Erian, Khaled M. Refaat, Alaaeldin Fayez, Maha Zaki
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Pediatrics
Subjects:
Imprinted disorders
Beckwith Wideman
Silver-Russel syndrome
Prader-Willi
Single nucleotide polymorphism analysis
Imprinted genes
Online Access:https://doi.org/10.1186/s12887-025-05901-4
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https://doi.org/10.1186/s12887-025-05901-4

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