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Article

Determinants of quality of life in Rett syndrome: new findings on associations with genotype.

Journal of medical genetics - 1 Sept 2021

Mendoza Jonathan, Downs Jenny, Wong Kingsley, Leonard Helen

Abstract excerpt

BACKGROUND: Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. METHODS: The International Rett Syndrome Database, InterRett, was used as a sampling frame for this observational study. Information was collected to...

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PMID: 32843489
DOI: 10.1136/jmedgenet-2020-107120

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