Rett syndrome in Ireland: a demographic study
Abstract Background Rett syndrome (RTT) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is primarily observed in girls and affects individuals globally. The understanding of the neurobiology of RTT and patient manag...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2024-01-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13023-024-03046-8 |