Related Experiment Video
Updated: Jun 24, 2026

Electrophysiological Assessment of Murine Atria with High-Resolution Optical Mapping
Published on: February 22, 2018
Molecular-clinical spectrum of the ATR-X syndrome
1Nuffield Department of Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK. rgibbons@pinnacle.jr2.ox.ac.uk
Abstract:
Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia]. An attempt is made in this article to review the clinical spectrum associated with ATRX mutations and to analyse the evidence for any genotype/phenotype correlation.
Related Concept Videos
Mitral Stenosis II: Clinical features and Diagnostic Tests
Aortic Regurgitation II: Clinical Features and Diagnostic Tests
Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations
Acute Coronary Syndrome III: Diagnostic Studies
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
Aneurysm II: Clinical Manifestations and Diagnostic Studies

