Associated Papers
Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review.
Sergi CM
Genes, 2025
Tafazzin regulates neutrophil maturation and inflammatory response.
Zakrzewski P et al.
Embo Reports, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Clinical presentation and natural history of Barth Syndrome: An overview.
Taylor C et al.
Journal of Inherited Metabolic Disease, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis.
Correa ARE et al.
Prenatal Diagnosis, 2021
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
Ripoll-Vera T et al.
Revista Espanola De Cardiologia (english Ed.), 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?
Thiels C et al.
Jimd Reports, 2016
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.
Hijikata A et al.
Meta Gene, 2015
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.
Bowron A et al.
Journal of Inherited Metabolic Disease, 2015
A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.
Fan Y et al.
Jimd Reports, 2013
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.
Finsterer J
Pediatric Cardiology, 2009
X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.
Brady AN et al.
Prenatal Diagnosis, 2006
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