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Article

Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome.

Journal of medical genetics - 1 Nov 2020

Carroll Michael Sean, Ramirez Jan-Marino, Weese-Mayer Debra E

Abstract excerpt

BACKGROUND: Rett syndrome is a severe neurological disorder with a range of disabling autonomic and respiratory symptoms and resulting predominantly from variants in the methyl-CpG binding protein 2 gene on the long arm of the X-chromosome. As basic research begins to suggest potential treatments, sensitive measures of the dynamic phenotype are needed to evaluate the results of these research efforts. Here we...

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Identifiers

PMID: 32156713
DOI: 10.1136/jmedgenet-2019-106601
PMCID: PMC7891682

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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