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Article

Elastin mutation is associated with a reduced gain of the baroreceptor--heart rate reflex in patients with Williams syndrome.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society - 1 Apr 2002

Girard Arlette, Sidi Daniel, Aggoun Yacine, Laude Dominique, Bonnet Damien, Elghozi Jean-Luc

Abstract excerpt

Microdeletion of chromosome 7q, encompassing the elastin locus, has been identified in patients with Williams syndrome (WS). This study tested the hypothesis that loss of medial elastin affects the discharge of baroreceptors and consequently the baroreflex sensitivity (BRS). Eight untreated patients with WS (14.8 +/- 2.4 y, m +/- SEM) were compared to 8 healthy subjects (15.1 +/- 2.3 y). Blood pressure (BP) was...

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Identifiers

PMID: 12102453
DOI: 10.1007/s102860200023

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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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