First reported case of de Novo claes-jensen syndrome (CJS) in Palestine: diagnostic challenges and genetic insights

First reported case of de Novo claes-jensen syndrome (CJS) in Palestine: diagnostic challenges and genetic insights

Abstract Background Claes-Jensen syndrome (CJS) is a rare X-linked intellectual disability caused by mutations in the KDM5C gene, encoding a histone demethylase involved in chromatin remodeling and neurodevelopment. Males with hemizygous mutations in KDM5C present with intellectual disability, dysmo...

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Bibliographic Details
Main Authors: Manal M. Shaheen, Ramzi H. Mujahed, Saja E. Abusabha, Iman M. Alwahsh, Areen A. Abufara, Leen J. Junaidi, Haya A. Alkablan
Format: Article
Language:English
Published: BMC 2025-05-01
Series:BMC Pediatrics
Subjects:
Claes-Jensen syndrome
De Novo variants
KDM5C gene
Intellectual disability
Online Access:https://doi.org/10.1186/s12887-025-05709-2
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