Natural history of Barth syndrome: a national cohort study of 22 patients
Natural history of Barth syndrome: a national cohort study of 22 patients
About this item
Full title
Author / Creator
Rigaud, Charlotte , Lebre, Anne-Sophie , Touraine, Renaud , Beaupain, Blandine , Ottolenghi, Chris , Chabli, Allel , Ansquer, Helene , Ozsahin, Hulya , Di Filippo, Sylvie , De Lonlay, Pascale , Borm, Betina , Rivier, Francois , Vaillant, Marie-Catherine , Mathieu-Dramard, Michèle , Goldenberg, Alice , Viot, Géraldine , Charron, Philippe , Rio, Marlene , Bonnet, Damien and Donadieu, Jean
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
This study describes the natural history of Barth syndrome (BTHS).
The medical records of all patients with BTHS living in France were identified in multiple sources and reviewed.
We identified 16 BTHS pedigrees that included 22 patients. TAZ mutations were observed in 15 pedigrees. The estimated incidence of BTHS was 1.5 cases per million bi...
Alternative Titles
Full title
Natural history of Barth syndrome: a national cohort study of 22 patients
Authors, Artists and Contributors
Author / Creator
Lebre, Anne-Sophie
Touraine, Renaud
Beaupain, Blandine
Ottolenghi, Chris
Chabli, Allel
Ansquer, Helene
Ozsahin, Hulya
Di Filippo, Sylvie
De Lonlay, Pascale
Borm, Betina
Rivier, Francois
Vaillant, Marie-Catherine
Mathieu-Dramard, Michèle
Goldenberg, Alice
Viot, Géraldine
Charron, Philippe
Rio, Marlene
Bonnet, Damien
Donadieu, Jean
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3656783
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3656783
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-8-70
