Broadening the Phenotype Spectrum of MECP2 Variants in Men

ABSTRACT Background MECP2 variants cause X‐chromosome‐linked rare developmental syndromes. Typically, the mutation is sporadic, occurs in females and is fatal in men. Accurate genetic and clinical diagnostics are considered essential for the management of symptoms and the development of new treatmen...

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Bibliographic Details
Main Authors: Johannes Lötjönen, Venla Kurra, Hannele Laivuori, Nina Bjelogrlić
Format: Article
Language:English
Published: Wiley 2025-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.70056
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