Natural history of Barth syndrome: a national cohort study of 22 patients
Contributeurs/tricesRigaud, Charlotte; Lebre, Anne-Sophie; Touraine, Renaud; Beaupain, Blandine; Ottolenghi, Chris; Chabli, Allel; Ansquer, Helene; Ozsahin, Ayse 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
Publié dansOrphanet journal of rare diseases, vol. 8, 70
Date de publication2013
Résumé
Mots-clés
- Adolescent
- Barth Syndrome/complications/genetics/mortality/physiopathology
- Cardiomyopathies/complications
- Child
- Child, Preschool
- Cohort Studies
- Female
- France
- Humans
- Male
- Mutation
- Neutropenia/complications
- Pedigree
- Survival Rate
- Transcription Factors/genetics
Structure d'affiliation
Groupe de recherche
Citation (format ISO)
RIGAUD, Charlotte et al. Natural history of Barth syndrome: a national cohort study of 22 patients. In: Orphanet journal of rare diseases, 2013, vol. 8, p. 70. doi: 10.1186/1750-1172-8-70
Fichiers principaux (1)
Article (Published version)
Identifiants
- PID : unige:35211
- DOI : 10.1186/1750-1172-8-70
- PMID : 23656970
ISSN du journal1750-1172
