Article

Rett Syndrome in Ireland: A demographic study

2023-02-16

Abstract excerpt

Rett syndrome (RTT) is a rare neuropsychiatric condition associated to 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 management has been improved by studies that describe the demographic and clinical presentation of patients with RTT. However, in Ireland, there...

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Literature Corpus work: f6158755-4855-5bda-823e-348cd7363483
DOI: 10.1101/2023.02.13.23285763

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