Beckwith-Wiedemann Syndrome: deciphering the genetic and clinical complexity - A case report with literature review

Beckwith-Wiedemann syndrome (BWS) is a rare and heterogeneous genetic condition characterized by overgrowth, organomegaly, and increased vulnerability to embryonal tumors. This review investigates the complex genetic and epigenetic pathways underlying Beckwith-Wiedemann syndrome, focusing on the 11p...

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Bibliographic Details
Main Authors: Astrit M. Gashi, Brikene Elshani
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2023-12-01
Series:Romanian Journal of Pediatrics
Subjects:
Online Access:https://rjp.com.ro/articles/2023.4/RJP_2023_4_Art-02.pdf