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...

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Bibliographic Details
Main Authors: Komal Zade, Ciara Campbell, Snow Bach, Hazel Fernandes, Daniela Tropea
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-024-03046-8