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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| Hoofdauteurs: | , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Wiley
2025-02-01
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| Reeks: | Molecular Genetics & Genomic Medicine |
| Onderwerpen: | |
| Online toegang: | https://doi.org/10.1002/mgg3.70056 |
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