Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.

doi:10.3390/genes15081107

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Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.

Genes - 22 Aug 2024

Neul Jeffrey L, Benke Timothy A, Marsh Eric D, Suter Bernhard, Fu Cary, Ryther Robin C, Skinner Steven A, Lieberman David N, Feyma Timothy, Beisang Arthur, Heydemann Peter, Peters Sarika U, Ananth Amitha, Percy Alan K

Abstract excerpt

Although long-term survival in Rett syndrome (RTT) has been observed, limited information on older people with RTT exists. We hypothesized that increased longevity in RTT would be associated with genetic variants in MECP2 associated with milder severity, and that clinical features would not be static in older individuals. To address these hypotheses, we compared the distribution of MECP2 variants and clinical...

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PMID: 39202466
DOI: 10.3390/genes15081107
PMCID: PMC11353339

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